Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
Am J Hum Genet
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.
Ann Clin Transl Neurol
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.
Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease.