Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.R271Q
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CLCN7

NM_001287.6:p.R271Q

Associated Papers

The impact of human hyperekplexia mutations on glycine receptor structure and function.

Bode A et al.

Molecular Brain, 2014

Chloride channelopathies.

Planells-Cases R et al.

Biochimica Et Biophysica Acta, 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."