Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.G551D
Back to variants list

CLCN1

NM_000083.3:p.G551D

Associated Papers

ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.

Brenes O et al.

Biomedicines, 2023

37892996 (PubMed )
Supplement: biomedicines-11-02622-s001.zip › Supplementary_Table_S1_ClC-1_Brenes-Pusch-Morales.xlsx › Hoja1

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

Suetterlin K et al.

Brain : a Journal of Neurology, 2022

Insights into channel dysfunction from modelling and molecular dynamics simulations.

Musgaard M et al.

Neuropharmacology, 2018

Chloride channels in myotonia congenita assessed by velocity recovery cycles.

Tan SV et al.

Muscle & Nerve, 2014

A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.

Kumar KR et al.

Muscle & Nerve, 2010

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."