Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55012
Gene Symbol: PPP2R3C
PPP2R3C
0.010 GeneticVariation disease BEFREE Results We have identified three different homozygous PPP2R3C variants, c.308T>C (p.L103P), c.578T>C (p.L193S) and c.1049T>C (p.F350S), in four girls with 46, XY complete gonadal dysgenesis. 30893644 2019