Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.A184V
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SLC45A2

NM_016180.5:p.A184V

Associated Papers

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

Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.

Wei A et al.

Journal of Dermatological Science, 2011

Site-directed mutational analysis for the ATP binding of DnaA protein. Functions of two conserved amino acids (Lys-178 and Asp-235) located in the ATP-binding domain of DnaA protein in vitro and in vivo.

Mizushima T et al.

The Journal of Biological Chemistry, 1998

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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."