Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.G651Splc
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OCA2

NM_000275.3:p.G651Splc

Associated Papers

Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.

Jiang B et al.

Molecular Genetics & Genomic Medicine, 2024

37882226 (PubMed )
Supplement: MGG3-12-e2297-s001.xlsx › Sheet1

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Ullah MI

Genes, 2022

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Shahzad M et al.

Scientific Reports, 2017

28266639 (PubMed )
Supplement: srep44185-s1.pdf
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