Associated Papers
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Benkirane M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency.
Wei X et al.
Human Mutation, 2020
Select a paper to view details