Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.E348_I349Splc
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OCA2

NM_000275.3:p.E348_I349Splc

Associated Papers

Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.

Ionova S et al.

Pigment Cell & Melanoma Research, 2026

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

Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

Khordadpoor-Deilamani F et al.

Journal of Human Genetics, 2016

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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."