Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewed
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR
Muhammad Farooq, Gitte Hoffmann Bruun, Menachem Viktor Sarusie…·Karen Grønskov
The paper reports molecular genetic diagnoses for 28 consanguineous OCA families and identifies a pathogenic deep intron variant in TYR that causes OCA through pseudoexon inclusion.
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