Article

From paleness to albinism: Contribution of <i>OCA2</i> exon 10 skipping to hypopigmentation

2025-07-11

Abstract excerpt

Pathogenic variants in the OCA2 gene result in oculocutaneous albinism. In humans and several other mammalian species, OCA2 is transcribed into two coding mRNAs, a major transcript that encodes the full-length protein and a minor transcript that skips in-frame exon 10 and has no identified function. By contrast, rodents and non-mammalian vertebrates only express the major transcript. Several rare variants of hum...

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Literature Corpus work: 9070e76e-0fd9-5eaa-8ca3-fd362f455536
DOI: 10.1101/2025.07.10.664067

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