Genetic & Genomic MedicinemedRxivPreprint
A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP
Annelise Yoo Mah-Som, Jil Daw, Diana Huynh…·Marwan S. Shinawi
The paper identifies novel VCP variants causing a childhood-onset neurodevelopmental disorder through exome sequencing and functional analysis.
DOI 10.1101/2023.06.19.23291232