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
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Dekker J et al.
American Journal of Human Genetics, 2023
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