Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.R101C
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SLC45A2

NM_016180.5:p.R101C

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

Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.

Bibi N et al.

Frontiers in Genetics, 2020

32849781 (PubMed )
Supplement: Data_Sheet_2.docx

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

Reinders A et al.

Molecular Medicine Reports, 2015

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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."