Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.A501D
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SLC45A2

NM_016180.5:p.A501D

Associated Papers

Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.

Kruijt CC et al.

Scientific Reports, 2021

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

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.

Rooryck C et al.

Pigment Cell & Melanoma Research, 2008

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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."