Genetic & Genomic MedicinePigment Cell & Melanoma ResearchPeer-reviewed
Unsuspected consequences of synonymous and missense variants in can be detected in blood cell RNA samples of patients with albinism
Vincent Michaud, Angèle Tingaud‐Sequeira, Elina Mercier…·Sophie Javerzat
The paper shows that blood cell RNA analysis can detect the effects of OCA2 variants on exon skipping and mRNA levels, helping to reclassify variants of unknown significance as pathogenic.
10 citations