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

S. S. Lewis, K. M. Girisha

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology