Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5336
Gene Symbol: PLCG2
PLCG2
0.010 GeneticVariation disease BEFREE <b>Conclusion:</b> Our findings indicate that L848P is novel a gain-of-function mutation that leads to PLCγ2 activation and suggest cutis laxa as a possible clinical manifestations of the APLAID syndrome. 30619256 2018