Associated Papers
ATP6V1C1 deficiency impairs auditory and vestibular hair cell function and leads to sensorineural hearing loss in humans and mice.
Yuan Q et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
Carpentieri G et al.
Hgg Advances, 2024
Select a paper to view details