Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.A50E
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SLC45A2

NM_016180.5:p.A50E

Associated Papers

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

Molecular genetic study of 59 Chinese Oculocutaneous albinism families.

Luo D et al.

European Journal of Medical Genetics, 2019

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