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65 Matching Annotations

Mar 2025
52.53.155.43 52.53.155.43

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1. scibot 24 Mar 2025
  
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  RRID:SCR_006169
  
  DOI: 10.1158/1078-0432.ccr-24-3936
  
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52.53.155.43/9d2d72079ea8ca48f04203f494da6924c0f290ae/PDF-html.html
Feb 2025
aacrjournals.org aacrjournals.org

A novel human SDHA‑knockout cell line model for the functional analysis of clinically‑relevant SDHA variants

1
1. scibot 13 Feb 2025
  
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  RRID:SCR_006169
  
  DOI: 10.1158/1078-0432.CCR-24-1601
  
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aacrjournals.org/clincancerres/article/30/23/5399/750191/A-Novel-Human-SDHA-Knockout-Cell-Line-Model-for
Jan 2025
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Tp53 determines the spatial dynamics of M1/M2 tumor-associated macrophages and M1-driven tumoricidal effects

1
1. scibot 25 Jan 2025
  
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  RRID:SCR_006169
  
  DOI: 10.1038/s41419-025-07346-0
  
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pmc.ncbi.nlm.nih.gov/articles/PMC11754596/
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Predisposition footprints in the somatic genome of Wilms tumours

1
1. scibot 24 Jan 2025
  
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  RRID:SCR_006169
  
  DOI: 10.1158/2159-8290.CD-24-0878
  
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pmc.ncbi.nlm.nih.gov/articles/PMC7617291/
physoc.onlinelibrary.wiley.com physoc.onlinelibrary.wiley.com

Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function

1
1. scibot 17 Jan 2025
  
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  RRID:SCR_006169
  
  DOI: 10.1113/JP286367
  
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physoc.onlinelibrary.wiley.com/doi/10.1113/JP286367
Dec 2024
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Pan-Cancer Analysis of Homologous Recombination Deficiency in Cell Lines

1
1. scibot 11 Dec 2024
  
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  RRID:SCR_006169
  
  DOI: 10.1158/2767-9764.CRC-24-0316
  
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pmc.ncbi.nlm.nih.gov/articles/PMC11621922/
Nov 2024
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Molecular and modular intricacies of precision oncology

1
1. scibot 10 Nov 2024
  
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  SCR_006169
  
  DOI: 10.3389/fimmu.2024.1476494
  
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pmc.ncbi.nlm.nih.gov/articles/PMC11537923/
Oct 2024
link.springer.com link.springer.com

Mapping multimodal phenotypes to perturbations in cells and tissue with CRISPRmap

1
1. scibot 08 Oct 2024
  
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  RRID:SCR_006169
  
  DOI: 10.1038/s41587-024-02386-x
  
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link.springer.com/article/10.1038/s41587-024-02386-x
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Clinical value of liquid biopsy in FGFR2 fusion-positive cholangiocarcinoma patients during targeted therapy

2
1. scibot 04 Oct 2024
  
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  RRID: SCR_006169
  
  DOI: 10.1158/1078-0432.CCR-23-3780
  
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2. scibot 04 Oct 2024
  
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  RRID:SCR_006169
  
  DOI: 10.1158/1078-0432.CCR-23-3780
  
  Resource: ClinVar (RRID:SCR_006169)
  
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ncbi.nlm.nih.gov/pmc/articles/PMC11443220/
Sep 2024
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

An interconnected data infrastructure to support large-scale rare disease research

1
1. scibot 26 Sep 2024
  
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  RRID:SCR_006169
  
  DOI: 10.1093/gigascience/giae058
  
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ncbi.nlm.nih.gov/pmc/articles/PMC11413801/
Jul 2024
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Cerebrospinal fluid cfDNA sequencing for classification of central nervous system glioma

1
1. scibot 18 Jul 2024
  
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  RRID:SCR_006169
  
  DOI: 10.1158/1078-0432.CCR-23-2907
  
  Resource: ClinVar (RRID:SCR_006169)
  
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ncbi.nlm.nih.gov/pmc/articles/PMC11247324/
Jun 2024
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

MONET: a database for prediction of neoantigens derived from microsatellite loci

1
1. scibot 09 Jun 2024
  
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  RRID:SCR_006169
  
  DOI: 10.3389/fimmu.2024.1394593
  
  Resource: ClinVar (RRID:SCR_006169)
  
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ncbi.nlm.nih.gov/pmc/articles/PMC11148240/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Memory/Active T-Cell Activation Is Associated with Immunotherapeutic Response in Fumarate Hydratase–Deficient Renal Cell Carcinoma

1
1. scibot 07 Jun 2024
  
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  RRID:SCR_006169
  
  DOI: 10.1158/1078-0432.CCR-23-2760
  
  Resource: ClinVar (RRID:SCR_006169)
  
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ncbi.nlm.nih.gov/pmc/articles/PMC11145163/
May 2024
aacrjournals.org aacrjournals.org

Negative hyperselection of resistance mutations for panitumumab maintenance in RAS wild-type metastatic colorectal cancer (PanaMa phase II trial, AIO KRK 0212)

1
1. scibot 23 May 2024
  
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  RRID:SCR_006169
  
  DOI: 10.1158/1078-0432.CCR-23-3023
  
  Resource: ClinVar (RRID:SCR_006169)
  
  Curator: @abever99
  
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  RRID:SCR_006169 DOI:10.1158/1078-0432.CCR-23-3023
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DOI:10.1158/1078-0432.CCR-23-3023

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aacrjournals.org/clincancerres/article/30/7/1256/741834/Negative-Hyperselection-of-Resistance-Mutations
52.53.155.43 52.53.155.43

ccr-23-2907-html.html

1
1. scibot 23 May 2024
  
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  SCR_006169
  
  DOI: 10.1158/1078-0432.ccr-23-2907
  
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52.53.155.43/41d915353208947e46d88a61eb38beca559a2aaa/ccr-23-2907-html.html
Apr 2024
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Co-mutations and KRAS G12C inhibitor efficacy in advanced NSCLC

1
1. scibot 20 Apr 2024
  
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  RRID:SCR_006169
  
  DOI: 10.1158/2159-8290.CD-22-1420
  
  Resource: ClinVar (RRID:SCR_006169)
  
  Curator: @scibot
  
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ncbi.nlm.nih.gov/pmc/articles/PMC11024958/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

A Novel CARMIL2 Immunodeficiency Identified in a Subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella Pneumonia

1
1. scibot 03 Apr 2024
  
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  RRID:SCR_006169
  
  DOI: 10.3390/jof10030198
  
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ncbi.nlm.nih.gov/pmc/articles/PMC10970956/
Mar 2024
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

A novel type of monocytic leukemia stem cell revealed by the clinical use of venetoclax-based therapy

1
1. scibot 06 Mar 2024
  
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  RRID:SCR_006169
  
  DOI: 10.1158/2159-8290.CD-22-1297
  
  Resource: ClinVar (RRID:SCR_006169)
  
  Curator: @evieth
  
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ncbi.nlm.nih.gov/pmc/articles/PMC10527971/
Dec 2023
www.sciencedirect.com www.sciencedirect.com

Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy

1
1. scibot 20 Dec 2023
  
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  RRID:SCR_006169
  
  DOI: 10.1016/j.celrep.2023.113490
  
  Resource: ClinVar (RRID:SCR_006169)
  
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sciencedirect.com/science/article/pii/S2211124723015024
52.53.155.43 52.53.155.43

physiolgenomics.00070.2023-html.html

1
1. scibot 01 Dec 2023
  
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  RRID:SCR_006169
  
  DOI: 10.6084/m9.figshare.23598732.v4
  
  Resource: ClinVar (RRID:SCR_006169)
  
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52.53.155.43/37a553f0bc437dc481c95fcb3601b715ab4e52f5/physiolgenomics.00070.2023-html.html
journals.physiology.org journals.physiology.org

Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease

1
1. scibot 01 Dec 2023
  
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  RRID:SCR_006169
  
  DOI: 10.1152/physiolgenomics.00070.2023
  
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journals.physiology.org/doi/10.1152/physiolgenomics.00070.2023
Nov 2023
www.nature.com www.nature.com

Preclinical evidence for the effective use of TL-895, a highly selective and potent second-generation BTK inhibitor, for the treatment of B-cell malignancies

1
1. scibot 25 Nov 2023
  
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  RRID:SCR_006169
  
  DOI: 10.1038/s41598-023-47735-z
  
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nature.com/articles/s41598-023-47735-z
Sep 2023
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Identifying mechanisms of resistance by circulating tumour DNA in EVOLVE, a Phase II Trial of Cediranib Plus Olaparib for Ovarian Cancer at time of PARP Inhibitor Progression

1
1. scibot 20 Sep 2023
  
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  RRID:SCR_006169
  
  DOI: 10.1158/1078-0432.CCR-23-0797
  
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ncbi.nlm.nih.gov/pmc/articles/PMC10502468/
Jul 2023
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A

1
1. scibot 08 Jul 2023
  
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  RRID:SCR_006169
  
  DOI: 10.3389/fgene.2023.1158350
  
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ncbi.nlm.nih.gov/pmc/articles/PMC10319579/
52.53.155.43 52.53.155.43

ccr-23-0797-html.html

1
1. scibot 08 Jul 2023
  
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  RRID:SCR_006169
  
  DOI: 10.1158/1078-0432.ccr-23-0797
  
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52.53.155.43/2c803156d89f9529c07ad3c21352a7e38912e0ae/ccr-23-0797-html.html
Jun 2023
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

A platform for efficient establishment and drug-response profiling of high-grade serous ovarian cancer organoids

1
1. scibot 22 Jun 2023
  
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  SCR_006169
  
  DOI: 10.1016/j.devcel.2023.04.012
  
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ncbi.nlm.nih.gov/pmc/articles/PMC10281085/
May 2023
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications

1
1. scibot 05 May 2023
  
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  RRID:SCR_006169
  
  DOI: 10.3389/fped.2022.899742
  
  Resource: ClinVar (RRID:SCR_006169)
  
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ncbi.nlm.nih.gov/pmc/articles/PMC9367218/
Apr 2023
academic.oup.com academic.oup.com

Regulatory Mendelian Mutation score for GRCh38

1
1. scibot 23 Apr 2023
  
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  RRID:SCR_006169
  
  DOI: 10.1093/gigascience/giad024
  
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academic.oup.com/gigascience/article/doi/10.1093/gigascience/giad024/7135629
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Structurally Complex Osteosarcoma Genomes Exhibit Limited Heterogeneity within Individual Tumors and across Evolutionary Time

1
1. scibot 14 Apr 2023
  
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  RRID:SCR_006169
  
  DOI: 10.1158/2767-9764.CRC-22-0348
  
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ncbi.nlm.nih.gov/pmc/articles/PMC10093779/
Mar 2023
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Predicting Cancer Risk from Germline Whole-exome Sequencing Data Using a Novel Context-based Variant Aggregation Approach

1
1. scibot 24 Mar 2023
  
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  RRID:SCR_006169
  
  DOI: 10.1158/2767-9764.CRC-22-0355
  
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ncbi.nlm.nih.gov/pmc/articles/PMC10032232/
Feb 2023
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Comprehensive genomic profiling of upper tract urothelial carcinoma and urothelial carcinoma of the bladder identifies distinct molecular characterizations with potential implications for targeted therapy & immunotherapy

1
1. scibot 23 Feb 2023
  
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  SCR_006169
  
  DOI: 10.3389/fimmu.2022.1097730
  
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  Curator: @scibot
  
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ncbi.nlm.nih.gov/pmc/articles/PMC9936149/
Jan 2023
www.nature.com www.nature.com

Germline rare deleterious variant load alters cancer risk, age of onset and tumor characteristics

1
1. scibot 31 Jan 2023
  
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  RRID:SCR_006169
  
  DOI: 10.1038/s41698-023-00354-3
  
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nature.com/articles/s41698-023-00354-3
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Human metastatic cholangiocarcinoma patient-derived xenografts and tumoroids for preclinical drug evaluation

1
1. scibot 28 Jan 2023
  
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  RRID:SCR_006169
  
  DOI: 10.1158/1078-0432.CCR-22-2551
  
  Resource: ClinVar (RRID:SCR_006169)
  
  Curator: @scibot
  
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ncbi.nlm.nih.gov/pmc/articles/PMC9873249/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Comparative Genomics Provides Etiologic and Biological Insight into Melanoma Subtypes

1
1. scibot 07 Jan 2023
  
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  RRID:SCR_006169
  
  DOI: 10.1158/2159-8290.CD-22-0603
  
  Resource: ClinVar (RRID:SCR_006169)
  
  Curator: @scibot
  
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ncbi.nlm.nih.gov/pmc/articles/PMC9716259/
Nov 2022
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Phase I trial of ribociclib with platinum chemotherapy in ovarian cancer

1
1. scibot 24 Nov 2022
  
  in Public
  
  RRID:SCR_006169
  
  DOI: 10.1172/jci.insight.160573
  
  Resource: ClinVar (RRID:SCR_006169)
  
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ncbi.nlm.nih.gov/pmc/articles/PMC9675476/
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Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome

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Integrative RNA-omics discovers GNAS alternative splicing as a phenotypic driver of splicing factor-mutant neoplasms

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Protocol to identify host-viral protein interactions between coagulation-related proteins and their genetic variants with SARS-CoV-2 proteins

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Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators

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Predictive markers of response to neoadjuvant durvalumab with nab-paclitaxel and dose dense doxorubicin/cyclophosphamide in basal-like triple negative breast cancer

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aacrjournals.org/clincancerres/article/28/12/2587/699273/Predictive-Markers-of-Response-to-Neoadjuvant
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A Humanized Animal Model Predicts Clonal Evolution and Therapeutic Vulnerabilities in Myeloproliferative Neoplasms

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Single cell characterization of the cellular landscape of acral melanoma identifies novel targets for immunotherapy

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Solitary Median Maxillary Central Incisor Syndrome: An Exploration of the Pathogenic Mechanism

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Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families

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onlinelibrary.wiley.com/doi/full/10.1002/jcla.24241
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Genomic alterations during the in situ to invasive ductal breast carcinoma transition shaped by the immune system

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ncbi.nlm.nih.gov/pmc/articles/PMC8026652/
Aug 2021
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CaMKII enhances voltage-gated sodium channel Nav1.6 activity and neuronal excitability

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ncbi.nlm.nih.gov/pmc/articles/PMC7450116/
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Genomic characterization of de novo metastatic breast cancer

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Untitled document

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Jul 2021
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Untitled document

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  DOI: 10.1016/j.cmet.2018.09.022
  
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sciencedirect.com/science/article/pii/S1550413118306302
europepmc.org europepmc.org

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.

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  DOI: 10.7554/eLife.30490
  
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europepmc.org/articles/PMC5764568/
Apr 2021
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Functional interrogation of DNA damage response variants with base editing screens

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sciencedirect.com/science/article/pii/S0092867421000842
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Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma

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  DOI: 10.1093/hmg/ddaa268
  
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academic.oup.com/hmg/article/29/22/3679/6035190
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Genome diversity in Ukraine

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  DOI: 10.1093/gigascience/giaa159
  
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academic.oup.com/gigascience/article/10/1/giaa159/6079618
Sep 2020
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Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss

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  DOI: 10.1016/j.csbj.2020.05.025
  
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sciencedirect.com/science/article/pii/S2001037020302889
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In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract

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ncbi.nlm.nih.gov/pmc/articles/PMC6959596/
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Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome

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  DOI: 10.1074/jbc.RA120.012614
  
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Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy

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  DOI: 10.1002/brb3.1597
  
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onlinelibrary.wiley.com/doi/10.1002/brb3.1597
Jan 2020
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A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation

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  DOI: 10.1016/j.neuron.2019.06.011
  
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sciencedirect.com/science/article/pii/S0896627319305616
Nov 2018
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Untitled document

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onlinelibrary.wiley.com/doi/full/10.1002/brb3.1134
Nov 2017
elifesciences.org elifesciences.org

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

2
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2. scibot 08 Nov 2017
  
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elifesciences.org/articles/23813
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Olfaction in Parkin carriers in Chinese patients with Parkinson disease

1
1. scibot 08 Nov 2017
  
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ncbi.nlm.nih.gov/pmc/articles/PMC5434185/
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Pubertal development in healthy children is mirrored by DNA methylation patterns in peripheral blood

1
1. scibot 08 Nov 2017
  
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ncbi.nlm.nih.gov/pmc/articles/PMC4923870/

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