Associated Papers
A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9.
Shravya MS et al.
Clinical Genetics, 2023
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
Ravenscroft G et al.
American Journal of Human Genetics, 2015
Select a paper to view details