De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Am J Hum Genet
; 107(6): 1129-1148, 2020 12 03.
Article
in En
| MEDLINE
| ID: mdl-33186545
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mutation, Missense
/
Vacuolar Proton-Translocating ATPases
/
Endosomal Sorting Complexes Required for Transport
/
Neurodevelopmental Disorders
/
ATPases Associated with Diverse Cellular Activities
Limits:
Animals
/
Humans
Language:
En
Journal:
Am J Hum Genet
Year:
2020
Document type:
Article
Affiliation country:
United kingdom
Country of publication:
United States