Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.
Sajjad KarimSamah SahartiNofe AlganmiZeenat MirzaAhmed AlfaresShereen TurkistanyManal Al-AttasHend NoureldinKhadega Al SakkafHeba AbusamraMohammed Al-QahtaniAdel AbuzenadahPublished in: Life (Basel, Switzerland) (2021)
and/or other disease-associated genetic variants in Saudi Arabia, particularly in consanguineous families.
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