Varaico: Literature-Extracted Genetic Variants

Gene:CIC
Variant:p.V286A
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CIC

NM_001386298.1:p.V286A

Associated Papers

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

Kubisch C et al.

Human Molecular Genetics, 1998

Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.

George AL et al.

Human Molecular Genetics, 1994

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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."