Genetic & Genomic MedicineeLifePeer-reviewed
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function
Mengqi Ma, Yiming Zheng, Mingxi Deng…·Hugo Jozef Bellen
The paper reports seven individuals with PLCG1 variants causing hearing, vision, cardiac, and immune issues, and shows these variants have gain-of-function effects in Drosophila models.
2 citations