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Transcriptomic profiling of cleavage-resistant RIPK1 induced autoinflammation syndrome patients

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NIAID Data Ecosystem2026-03-11 收录
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https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE127572
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RIPK1 is known to play an important role in TNF induced immune signaling. We have identified three pedigrees with heterozygos mutations in RIPK1 that disrupts its cleavage. We studied the transcriptional profiles of whole blood from one patient. RNAseq using the whole blood of a patient having heterozygous mutation in RIPK1 cleavage site (p.D324Y)
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2020-01-02
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