Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.
Genet Med
; 25(12): 100979, 2023 Dec.
Article
in En
| MEDLINE
| ID: mdl-37689994
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Color Vision Defects
Type of study:
Risk_factors_studies
Limits:
Humans
Language:
En
Journal:
Genet Med
Journal subject:
GENETICA MEDICA
Year:
2023
Document type:
Article
Affiliation country:
Alemania