Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.G194fs
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SLC45A2

NM_016180.5:p.G194fs

Associated Papers

Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs*7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India.

Lewis SS et al.

Clinical and Experimental Dermatology, 2020

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