TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Article
in En
| MEDLINE
| ID: mdl-34314705
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Eye Diseases, Hereditary
/
Developmental Disabilities
/
Ran GTP-Binding Protein
/
Karyopherins
/
Beta Karyopherins
/
Drosophila Proteins
/
Intellectual Disability
/
Musculoskeletal Abnormalities
Type of study:
Risk_factors_studies
Language:
En
Journal:
Am J Hum Genet
Year:
2021
Document type:
Article