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19 Matching Annotations

Aug 2026
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

A Novel FAM83H Truncation Mutation Disrupts Enamel Mineralization in Autosomal Dominant Hypocalcified Amelogenesis Imperfecta

1
1. scibot 15 Aug 2026
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1002/cre2.70431
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @scibot
  
  SciCrunch record: RRID:SCR_012761
  
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pmc.ncbi.nlm.nih.gov/articles/PMC13472511/
Apr 2026
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Tumor genomics in patients younger than 40 years of age with metastatic breast cancer

1
1. scibot 11 Apr 2026
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1038/s41698-026-01333-0
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @scibot
  
  SciCrunch record: RRID:SCR_012761
  
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pmc.ncbi.nlm.nih.gov/articles/PMC13057355/
Jul 2025
www.tandfonline.com www.tandfonline.com

A rare likely pathogenic HLA-DRB1 variant with compromised immunity in severe COVID-19 patient and in-hospital mortality

1
1. scibot 30 Jul 2025
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1080/17410541.2025.2538424
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @scibot
  
  SciCrunch record: RRID:SCR_012761
  
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  RRID:SCR_012761
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scibot

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tandfonline.com/doi/abs/10.1080/17410541.2025.2538424
Feb 2025
52.53.155.43 52.53.155.43

1-s2.0-S1098360025000322-main-html.html

1
1. scibot 25 Feb 2025
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1016/j.gim.2025.101385
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @scibot
  
  SciCrunch record: RRID:SCR_012761
  
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52.53.155.43/e3ce1c76c910e204185d6313a33c3dc5be018720/1-s2.0-S1098360025000322-main-html.html
Jan 2025
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Liver-specific gene PGRMC1 blocks c-Myc-induced hepatocarcinogenesis through ER stress-independent PERK activation

1
1. scibot 16 Jan 2025
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1038/s41467-024-55745-2
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @scibot
  
  SciCrunch record: RRID:SCR_012761
  
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pmc.ncbi.nlm.nih.gov/articles/PMC11696091/
May 2024
aacrjournals.org aacrjournals.org

Integrative molecular analyses of the MD Anderson prostate cancer patient-derived xenograft (MDA PCa PDX) series

1
1. scibot 17 May 2024
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1158/1078-0432.CCR-23-2438
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @scibot
  
  SciCrunch record: RRID:SCR_012761
  
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  RRID:SCR_012761
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aacrjournals.org/clincancerres/article/30/10/2272/745168/Integrative-Molecular-Analyses-of-the-MD-Anderson
Nov 2023
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Clinical and Molecular Features of Long-term Response to Immune Checkpoint Inhibitors in Patients with Advanced Non–Small Cell Lung Cancer

1
1. scibot 03 Nov 2023
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1158/1078-0432.CCR-23-1207
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @scibot
  
  SciCrunch record: RRID:SCR_012761
  
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ncbi.nlm.nih.gov/pmc/articles/PMC10618656/
Jan 2023
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Circulating Tumor DNA in Stage III Colorectal Cancer, beyond Minimal Residual Disease Detection, toward Assessment of Adjuvant Therapy Efficacy and Clinical Behavior of Recurrences

1
1. scibot 12 Jan 2023
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1158/1078-0432.CCR-21-2404
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @evieth
  
  SciCrunch record: RRID:SCR_012761
  
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  RRID:SCR_012761
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ncbi.nlm.nih.gov/pmc/articles/PMC9401484/
Jul 2022
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia–Related Infertility in Three Chinese Families

1
1. scibot 09 Jul 2022
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.3389/fgene.2022.922287
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @scibot
  
  SciCrunch record: RRID:SCR_012761
  
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ncbi.nlm.nih.gov/pmc/articles/PMC9257073/
May 2022
aacrjournals.org aacrjournals.org

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

1
1. scibot 19 May 2022
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1158/1078-0432.CCR-21-3145
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @scibot
  
  SciCrunch record: RRID:SCR_012761
  
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aacrjournals.org/clincancerres/article/28/10/2131/694823/Single-cell-Characterization-of-the-Cellular
aacrjournals.org aacrjournals.org

A Phenogenetic Axis that Modulates Clinical Manifestation and Predicts Treatment Outcome in Primary Myeloid NeoplasmsLandscape of Myeloid Neoplasms in a Chinese Cohort

1
1. scibot 05 May 2022
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1158/2767-9764.CRC-21-0194
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @scibot
  
  SciCrunch record: RRID:SCR_012761
  
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  RRID:SCR_012761
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aacrjournals.org/cancerrescommun/article/2/4/258/694752/A-Phenogenetic-Axis-that-Modulates-Clinical
Dec 2021
academic.oup.com academic.oup.com

Smoking History as a Potential Predictor of Immune Checkpoint Inhibitor Efficacy in Metastatic Non-Small Cell Lung Cancer

1
1. scibot 02 Dec 2021
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1093/jnci/djab116
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @scibot
  
  SciCrunch record: RRID:SCR_012761
  
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  RRID:SCR_012761
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academic.oup.com/jnci/article/113/12/1761/6296846
Nov 2021
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Association between smoking history and tumor mutation burden in advanced non-small cell lung cancer

1
1. scibot 05 Nov 2021
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1158/0008-5472.CAN-20-3991
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @scibot
  
  SciCrunch record: RRID:SCR_012761
  
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  RRID:SCR_012761
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ncbi.nlm.nih.gov/pmc/articles/PMC8137661/
Aug 2021
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Genomic characterization of de novo metastatic breast cancer

1
1. scibot 17 Aug 2021
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1158/1078-0432.CCR-20-1720
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @scibot
  
  SciCrunch record: RRID:SCR_012761
  
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  RRID:SCR_012761
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ncbi.nlm.nih.gov/pmc/articles/PMC7887078/
Jul 2021
europepmc.org europepmc.org

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

1
1. scibot 29 Jul 2021
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.7554/eLife.30490
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @evieth
  
  SciCrunch record: RRID:SCR_012761
  
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  RRID:SCR_012761 RRIDCUR:Validated
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RRID:SCR_012761

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europepmc.org/articles/PMC5764568/
Mar 2021
academic.oup.com academic.oup.com

Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma

1
1. scibot 03 Mar 2021
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1093/hmg/ddaa268
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @Naa003
  
  SciCrunch record: RRID:SCR_012761
  
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  RRIDCUR:Validated RRID:SCR_012761
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RRID:SCR_012761

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academic.oup.com/hmg/article/29/22/3679/6035190
Jan 2020
www.sciencedirect.com www.sciencedirect.com

Integrated Proteogenomic Characterization of HBV-Related Hepatocellular Carcinoma

1
1. scibot 13 Jan 2020
  
  in Public
  
  RRID:SCR_012761
  
  DOI: 10.1016/j.cell.2019.08.052
  
  Resource: NHLBI Exome Sequencing Project (ESP) (RRID:SCR_012761)
  
  Curator: @ethanbadger
  
  SciCrunch record: RRID:SCR_012761
  
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  RRID:SCR_012761 RRIDCUR:Validated
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RRID:SCR_012761

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URL

sciencedirect.com/science/article/pii/S0092867419310037
Nov 2018
www.sciencedirect.com www.sciencedirect.com

Untitled document

1
1. scibot 05 Nov 2018
  
  in Public
  
  RRID:SCR_012761
  
  Curator: @Jmenke
  
  Resource used:
  
  (NHLBI Exome Sequencing Project (ESP), RRID:SCR_012761)
  
  SciCrunch record: RRID:SCR_012761
  
  Alternate resolvers: SciCrunch xml N2T identifiers.org
  
  What is this?
  
  RRID:SCR_012761 RRIDCUR:Validated
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RRIDCUR:Validated

RRID:SCR_012761

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sciencedirect.com/science/article/pii/S0092867418311097
Nov 2017
www.sciencedirect.com www.sciencedirect.com

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity

1
1. scibot 08 Nov 2017
  
  in Public
  
  Exome Variant Server
  
  Curator: @chewbeccax
  
  Resource used:
  
  (NHLBI Exome Sequencing Project (ESP), RRID:SCR_012761)
  
  SciCrunch record: RRID:SCR_012761
  
  Alternate resolvers: SciCrunch xml N2T identifiers.org
  
  What is this?
  
  RRID:SCR_012761 RRIDCUR:Missing
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RRID:SCR_012761

RRIDCUR:Missing

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scibot

URL

sciencedirect.com/science/article/pii/S0092867416309266