Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
- Cited forINVOLVEMENT IN SMDCD, VARIANT SMDCD SER-878, CHARACTERIZATION OF VARIANT SMDCD SER-878, FUNCTION, SUBCELLULAR LOCATION
- CategoriesFunction, Sequences, Disease & Variants, Subcellular Location
- SourceUniProtKB reviewed (Swiss-Prot)