Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.M146K
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SLC45A2

NM_016180.5:p.M146K

Associated Papers

Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.

Okamura K et al.

Pigment Cell & Melanoma Research, 2025

Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4.

Ozaki S et al.

Acta Dermato-venereologica, 2017

Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes.

Inagaki K et al.

Pigment Cell Research, 2006

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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."