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1 records shown · first 60Mutation Profiling of Intracranial Myxopapillary Ependymoma by Next Generation DNA Sequencing.
PMID 35152189 · The Gulf journal of oncology · 2021 · 21 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2491231 | “Additionally, a known intronic variant was identified in KDR and a known acceptor site splice variant in FLT3 (rs2491231) and a SNP in the 3 ' -UTR of the CSF1R gene (rs2066934) were also identified.” | 0.90 | hgvs_regex_v1 |
| gene | IDH1 | “Missense mutation in c.395G>A; in exon 4 of the IDH1 gene, and a missense mutation in c.215C>G; in exon 4 of the TP53 gene were found in this tumor were previously reported.” | 0.98 | hgnc_dict_v1 |
| gene | TP53 | “Missense mutation in c.395G>A; in exon 4 of the IDH1 gene, and a missense mutation in c.215C>G; in exon 4 of the TP53 gene were found in this tumor were previously reported.” | 0.98 | hgnc_dict_v1 |
| gene | FGFR3 | “The known synonymous mutations were found in this tumor were, in exon 14 of FGFR3 in c.1953G>A; in exon 12 of PDGFRA in c.1701A>G; in exon 18 of PDGFRA c.2472C>T; in exon 20 of EGFR in c.2361G>A; in exon 13 of RET in c.2307G>T; in exon 16 of APC in c.4479G>A; and in exon 2 of MET in c.534C>T.” | 0.98 | hgnc_dict_v1 |