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1 records shown · first 60Analyzing fourteen deleterious nsSNPs of CFTR as promising genetic markers for cancer prognosis.
PMID 41917079 | PMCID PMC13106712 | DOI 10.1038/s41598-026-45158-0 · Scientific reports · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs949472192 | “Testing through Hardy-Weinberg Equilibrium (HWE) showed significant deviation in both patient and control groups for the nsSNPs, rs556880586 and rs949472192.” | 0.90 | hgvs_regex_v1 |
| gene | CFTR | “Analyzing fourteen deleterious nsSNPs of CFTR as promising genetic markers for cancer prognosis.” | 0.98 | hgnc_dict_v1 |
| phenotype | cystic fibrosis | “Cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel protein involved in trans-epithelial transport of salt and the regulation of intracellular ion concentrations.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs556880586 | “The genotyping analysis indicated that the heterozygous (AT) genotype of rs556880586 was highly prevalent in patients (70%) in comparison to controls (19%).” | 0.90 | hgvs_regex_v1 |