From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation
Elina Mercier, David‐Alexandre Trégouët, Sébastien Campagne, Vincent Michaud, David J. Green, Shahram Mesdaghi, Orane Le Gallais, Orphée Jouannigot-Castano, Daniel John Rigden, Catherine E. Estay-Ahumada, David Hicks, Panagiotis I. Sergouniotis, Benoı̂t Arveiler, Sophie Javerzat
The paper investigates how variants in OCA2 exon 10 affect splicing and pigmentation, showing that some variants increase exon skipping and contribute to hypopigmentation.
PLoS Genetics · Sep 25, 2025Peer-reviewedGenetics