Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.R317*
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CLCN1

NM_000083.3:p.R317*

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina.

Kucera KS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

A library of induced pluripotent stem cells from clinically well-characterized, diverse healthy human individuals.

Schaniel C et al.

Stem Cell Reports, 2021

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

Moon IS et al.

Journal of Korean Medical Science, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."