Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.

Besides identifying the pathogenic variant in the 11 albinism patients, the panel sequencing also made it possible to analyze the common variants of the entire cohort: a recent study suggested that TYR variants S192Y and R402Q are likely to be significant modifiers of other pigmentation gene variants.

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