Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.G780S
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OCA2

NM_000275.3:p.G780S

Associated Papers

Oculocutaneous albinism in a patient with an OCA2 variant: molecular and clinical insights.

Neissi M et al.

Asian Biomedicine : Research, Reviews and News, 2025

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-s002.xlsx › Supplementary_Table_2

A new type of oculocutaneous albinism with a novel OCA2 mutation.

Lee SY et al.

Yeungnam University Journal of Medicine, 2021

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