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1 records shown · first 60Identification of novel natural compounds against CFTR p.Gly628Arg pathogenic variant.
PMID 39249658 | PMCID PMC11383896 | DOI 10.1186/s13568-024-01762-9 · AMB Express · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs397508316 | “The aim of our study to find natural compounds that can improve lung function for people with cystic fibrosis (CF) caused by the p.Gly628Arg (rs397508316) mutation of CFTR protein.” | 0.90 | hgvs_regex_v1 |
| gene | CFTR | “Identification of novel natural compounds against CFTR p.Gly628Arg pathogenic variant.” | 0.98 | hgnc_dict_v1 |
| phenotype | cystic fibrosis | “Cystic fibrosis transmembrane conductance regulator (CFTR) protein is an ion channel found in numerous epithelia and controls the flow of water and salt across the epithelium.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Gly628Arg | “Identification of novel natural compounds against CFTR p.Gly628Arg pathogenic variant.” | 0.95 | hgvs_regex_v1 |