Article

Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune function

2024-01-09

Abstract excerpt

Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate (PIP 2 ) into inositol 1,4,5-trisphosphate (IP 3 ) and diacylglycerol (DAG), important signaling molecules involved in many cellular processes including Ca 2+ release from the endoplasmic reticulum (ER). PLCG1 encodes the PLCγ1 isozyme that is broadly expressed. Hyperactive somatic mutations of PLCG1 are observed in multiple cance...

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Literature Corpus work: f8e659ab-174d-59e3-ae1e-e64cf22e4302
DOI: 10.1101/2024.01.08.23300523

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