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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN7

Variant:p.R674G

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CLCN7

NM_001287.6:p.R674G

hg38:chr16:1447708 G>C

Associated Papers

Compound heterozygosity in type-II oculocutaneous albinism.

Doshi S et al.

Indian Journal of Dermatology, Venereology and Leprology, 2025

40357958 (PubMed )

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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."