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Curation of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays.

Pigment cell & melanoma research - 1 Jan 2025

Yang Qingsong, Wang Yizhen, Wang Zengge, Lv Shushu, Hao Zhenhua, Wei Aihua, Li Wei

Abstract excerpt

Oculocutaneous albinism type 2 (OCA-2, OMIM: 203200) is associated with variants in the OCA2 gene. In this study, we aimed to re-classify variants of uncertain significance (VUS) in OCA2 by evaluating subcellular localization and channel activity through multiplex assays of variant effect (MAVEs). Following the ClinGen guidelines for PS3 evidence, we selected 13 OCA2 variants from ClinVar (6 benign/likely benign...

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PMID: 39636647
DOI: 10.1111/pcmr.13212

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