Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies
AUTHORS
Unlu
GGokhan ,
Qi
XXinzi ,
Gamazon
EREric R ,
Melville
DBDavid B ,
Patel
NNisha ,
Rushing
ARAmy R ,
Hashem
MMais ,
Al-Faifi
AAbdullah ,
Chen
RRui ,
Li
BBingshan ,
Cox
NJNancy J ,
Alkuraya
FSFowzan S ,
Knapik
EWEla W .
Nature medicine. 2020 01 13; 26(1).
98-109
- PMID: 31932796[PubMed].