Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.Y715S
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CLCN7

NM_001287.6:p.Y715S

Associated Papers

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Nicoli ER et al.

American Journal of Human Genetics, 2019

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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."