Article

A new rescue assay for genetic diagnosis of oculocutaneous albinism using MNT1 knock-out cells

2025-11-27

Abstract excerpt

The molecular diagnosis of albinism is hampered by a significant number of genetic variants of unknown significance (VUS) including a majority of missense and in-frame insertion deletion variants. This contributes to the high rate of unresolved genetic diagnosis for this disease. We designed a straightforward test of missense VUS in albinism genes based on functional rescue. As a proof of concept, the assay was se...

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Literature Corpus work: 9bf00966-c19d-5c04-b293-a11fa854979a
DOI: 10.1101/2025.11.26.25341047

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