Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.G230R
Back to variants list

CLCN1

NM_000083.3:p.G230R

Associated Papers

Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations.

Wang X et al.

Italian Journal of Pediatrics, 2025

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."