Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.S18T
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CLCN1

NM_000083.3:p.S18T

Associated Papers

Novel N-terminal truncating CLCN1 mutation in severe Becker disease.

Hoche F et al.

Muscle & Nerve, 2014

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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."