Hypothesis

1 Matching Annotations

Jan 2024
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

“Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”

1
1. AishwaryaK 17 Jan 2024
  
  in Public
  
  The DNA sequencing analysis of the KCNQ1 gene disclosed a homozygous c.728G > A (p.Arg243His) missense mutation in case1.
  
  Out of 3 patients one of the patient was identified with KCNQ1 RYR2 and NKX2 genes.
  
  Gene - KCNQ1 HGNC:6294
Visit annotations in context

Tags

Gene - KCNQ1

HGNC:6294

Annotators

AishwaryaK

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5644177/