Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.I147K
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SLC45A2

NM_016180.5:p.I147K

Associated Papers

Current landscape of Oculocutaneous Albinism in Japan.

Okamura K et al.

Pigment Cell & Melanoma Research, 2021

A 4-bp deletion promoter variant (rs984225803) is associated with mild OCA4 among Japanese patients.

Okamura K et al.

Pigment Cell & Melanoma Research, 2019

Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4.

Ozaki S et al.

Acta Dermato-venereologica, 2017

Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model.

Reinders A et al.

Molecular Medicine Reports, 2015

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."