Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.Y70H
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SLC45A2

NM_016180.5:p.Y70H

Associated Papers

A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling.

Surl D et al.

Translational Vision Science & Technology, 2026

Unusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 (OCA-4): Clinical and Functional Features From A Chinese Family.

Zhang Y et al.

Pigment Cell & Melanoma Research, 2025

A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.

Oki R et al.

Investigative Ophthalmology & Visual Science, 2017

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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."