Associated Papers
RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature.
Baker EK et al.
Molecular Genetics and Genomics : Mgg, 2023
Recessive mutations in VPS13D cause childhood onset movement disorders.
Gauthier J et al.
Annals of Neurology, 2018
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