Varaico: Literature-Extracted Genetic Variants

Gene:HPS3
Variant:p.Y489insFs
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HPS3

NM_032383.5:p.Y489insFs

Associated Papers

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Grønskov K et al.

Scientific Reports, 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."