1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isofo - Protein

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Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants. [Dis Model Mech. 2022]
Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.
Kanai SM, Heffner C, Cox TC, Cunningham ML, Perez FA, Bauer AM, Reigan P, Carter C, Murray SA, Clouthier DE. Dis Model Mech. 2022 Apr 1; 15(4). Epub 2022 Apr 29.
Uveal melanoma-associated mutations in PLCβ4 are constitutively activating and promote melanocyte proliferation and tumorigenesis. [Sci Signal. 2021]
Uveal melanoma-associated mutations in PLCβ4 are constitutively activating and promote melanocyte proliferation and tumorigenesis.
Phan HTN, Kim NH, Wei W, Tall GG, Smrcka AV. Sci Signal. 2021 Dec 14; 14(713):eabj4243. Epub 2021 Dec 14.
A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity. [Eur J Med Genet. 2020]
A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.
Nabil A, El Shafei S, El Shakankiri NM, Habib A, Morsy H, Maddirevula S, Alkuraya FS. Eur J Med Genet. 2020 Jun; 63(6):103917. Epub 2020 Mar 19.

RefSeq genomic sequence
See the genomic reference sequence for the PLCB4 gene (NG_032790.2).
RefSeq mRNA
See reference mRNA sequence for the PLCB4 gene (XM_017027884.2).

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1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X3 [Hom...
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X3 [Homo sapiens]
gi|1034625234|ref|XP_016883373.1|

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