Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.P58A
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SLC45A2

NM_016180.5:p.P58A

Associated Papers

Mutations in SLC45A2 lead to loss of melanin in parrot feathers.

Ghosh Roy S et al.

G3 (bethesda, Md.), 2024

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

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

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."