Varaico: Literature-Extracted Genetic Variants

Gene:SLC24A5
Variant:p.I76M
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SLC24A5

NM_205850.3:p.I76M

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

Cellular localization of the K+ -dependent Na+ -Ca2+ exchanger NCKX5 and the role of the cytoplasmic loop in its distribution in pigmented cells.

Rogasevskaia TP et al.

Pigment Cell & Melanoma Research, 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."