Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.Q310*
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OCA2

NM_000275.3:p.Q310*

Associated Papers

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.

Green DJ et al.

Nature Communications, 2024

39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1

Current landscape of Oculocutaneous Albinism in Japan.

Okamura K et al.

Pigment Cell & Melanoma Research, 2021

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