GeneticsbioRxivPreprint
A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs, and limb ataxia
Abhishek Anil Dubey, Magdalena Krygier, Natalia A. Szulc…·Rafał Płoski
The paper identifies a de novo FEM1C variant linked to neurodevelopmental disorder and shows its pathogenicity using in vitro and in vivo models.
DOI 10.1101/2022.04.24.489208