Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

Genetics in Medicine, Published online: 12 August 2021; doi:10.1038/s41436-021-01291-xBiallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

Source: Genetics in Medicine - August 12, 2021 Category: Genetics & Stem Cells Authors: Daniel G. Calame Somayeh Bakhtiari Rachel Logan Zeynep Coban-Akdemir Haowei Du Tadahiro Mitani Jawid M. Fatih Jill V. Hunter Isabella Herman Davut Pehlivan Shalini N. Jhangiani Richard Person Rhonda E. Schnur Sheng Chih Jin Kaya Bilguvar Jennifer E. Posey Source Type: research