Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 285498
Gene Symbol: RNF212
RNF212
0.010 GeneticVariation disease BEFREE For the first time, we report biallelic variants in STAG3, in one sporadic patient, and a homozygous RNF212 variant, in the two brothers, as the genetic cause of NOA. 31125047 2019