Associated Papers
VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.
de Mendonça RS et al.
Cerebellum (london, England), 2025
VPS13D-related disorders: a severe case, review, and genotype-phenotype correlation.
Liu WL et al.
Neurocase, 2025
Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese.
Dong Y et al.
American Journal of Medical Genetics. Part A, 2024
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
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
VPS13D: One Family, Same Mutations, Two Phenotypes.
Petry-Schmelzer JN et al.
Movement Disorders Clinical Practice, 2021
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