Article

Unsuspected consequences of synonymous and missense variants in<i>OCA2</i>can be detected in blood cell RNA samples of patients with albinism

2023-07-09

Abstract excerpt

<h4>ABSTRACT</h4> Oculocutaneous albinism type 2 (OCA2) is the second most frequent form of albinism and represents about 30% of OCA worldwide. As with all types of OCA, patients present with hypopigmentation of hair and skin as well as severe visual abnormalities. We focused on a subgroup of 29 patients for whom genetic diagnosis was pending because at least one of their identified variants in or around exon 10 o...

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Literature Corpus work: 201aca73-61ee-5df9-81a2-292ee1221048
DOI: 10.1101/2023.07.07.23292371

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