Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Article
in En
| MEDLINE
| ID: mdl-37963460
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Neurodevelopmental Disorders
/
Intellectual Disability
/
Nervous System Malformations
Limits:
Humans
Language:
En
Journal:
Am J Hum Genet
Year:
2023
Document type:
Article