Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.I304S
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OCA2

NM_000275.3:p.I304S

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-s002.xlsx › Supplementary_Table_2

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.

Kessel L et al.

Ophthalmic Genetics, 2021

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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."