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2 records shown · first 60Molecular Analysis of Genes CEBPA, NPM1, IDH1, and RUNX1 Polymorphisms as Biomarker Potential in Leukemia Patients.
PMID 39565200 | DOI 10.1002/mc.23846 · Molecular carcinogenesis · 2025 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs11554137 | “This research study was conducted to figure out the link of single nucleotide polymorphisms of genes CEBPA (rs34529039), NPM1 (rs753788683), IDH1 (of rs11554137) and RUNX1 (rs13051066) polymorphisms as biomarker potential in leukemia patients.” | 0.90 | hgvs_regex_v1 |
| gene | CEBPA | “Molecular Analysis of Genes CEBPA, NPM1, IDH1, and RUNX1 Polymorphisms as Biomarker Potential in Leukemia Patients.” | 0.98 | hgnc_dict_v1 |
| gene | NPM1 | “Molecular Analysis of Genes CEBPA, NPM1, IDH1, and RUNX1 Polymorphisms as Biomarker Potential in Leukemia Patients.” | 0.98 | hgnc_dict_v1 |
| gene | IDH1 | “Molecular Analysis of Genes CEBPA, NPM1, IDH1, and RUNX1 Polymorphisms as Biomarker Potential in Leukemia Patients.” | 0.98 | hgnc_dict_v1 |
Adamantinomatous Craniopharyngioma in an Adult: A Case Report with NGS Analysis.
PMID 32368160 | PMCID PMC7183340 | DOI 10.2147/IMCRJ.S243405 · International medical case reports journal · 2020 · 24 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs11554137 | “Seven synonymous mutations were detected in this tumor, viz., in IDH1 (rs11554137), in FGFR3 (rs7688609), in PDGFRA (rs1873778), in APC (COSM3760869), in EGFR (rs1050171), in MET (rs35775721), and in RET (rs1800861), respectively.” | 0.90 | hgvs_regex_v1 |
| gene | CTNNB1 | “PURPOSE: Several recent studies have documented CTNNB1 and BRAF mutations which are mutually exclusive for adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP) tumors.” | 0.98 | hgnc_dict_v1 |
| gene | BRAF | “PURPOSE: Several recent studies have documented CTNNB1 and BRAF mutations which are mutually exclusive for adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP) tumors.” | 0.98 | hgnc_dict_v1 |
| gene | TP53 | “In CTNNB1 gene a known missense mutation in c.101G>T; in TP53 a known missense mutation in c.215C>G; and two known missense variants in PIK3CA, viz., in c.1173A>G; in exon 7, and in c.3128T>C; in exon 21, were found, respectively.” | 0.98 | hgnc_dict_v1 |