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Gene Information
Gene symbol: PIK3CD
Gene name: phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
HGNC ID: 8977
Synonyms: p110D
Related Genes
Related Sentences
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PMID |
Sentence |
1 |
24136356
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Here, we describe activated PI3K-δ syndrome (APDS), a PID associated with a dominant gain-of-function mutation in which lysine replaced glutamic acid at residue 1021 (E1021K) in the p110δ protein, the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), encoded by the PIK3CD gene.
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