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  1. Jan 2024
  2. 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”
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    1. AishwaryaK 17 Jan 2024
      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
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    ncbi.nlm.nih.gov/pmc/articles/PMC5644177/