Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.R300R
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CLCN1

NM_000083.3:p.R300R

Associated Papers

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

Pusch M

Human Mutation, 2002

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.

Sangiuolo F et al.

Human Mutation, 1998

Myotonia in ion channel diseases of muscle.

Partanen J et al.

Duodecim; Laaketieteellinen Aikakauskirja, 0

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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."