A Novel Variant in VPS13B Underlying Cohen Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "BioMed Research International"
DOI: 10.1155/2023/9993801
Abstract: Pathogenic variants in vacuolar protein sorting 13 homolog B (VPS13B) cause Cohen syndrome (CS), a clinically diverse neurodevelopmental disorder. We used whole exome and Sanger sequencing to identify disease-causing variants in a Pakistani family with… read more here.
Keywords: novel variant; vps13b underlying; cohen syndrome; vps13b ... See more keywords
Spatial Learning and Motor Deficits in Vacuolar Protein Sorting-associated Protein 13b (Vps13b) Mutant Mouse
Sign Up to like & getrecommendations! Published in 2019 at "Experimental Neurobiology"
DOI: 10.5607/en.2019.28.4.485
Abstract: Vacuolar protein sorting-associated protein 13B (VPS13B), also known as COH1, is one of the VPS13 family members which is involved in transmembrane transport, Golgi integrity, and neuritogenesis. Mutations in the VPS13B gene are associated with… read more here.
Keywords: protein; mutant mice; vps13b mutant; vps13b ... See more keywords