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2 records shown · first 60Three Complex alleles associated with N1303K mutation and their molecular consequences.
PMID 35988290 | DOI 10.14715/cmb/2022.68.4.7 · Cellular and molecular biology (Noisy-le-Grand, France) · 2022 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Asn1303Lys | “The c.3909C>G (N1303K, p.Asn1303Lys) mutation of the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR).” | 0.95 | hgvs_regex_v1 |
| gene | CFTR | “Cystic Fibrosis (CF) in Arab Mediterranean countries has a different CFTR mutational profile if compared either to Caucasians or in the Arabian Peninsula.” | 0.98 | hgnc_dict_v1 |
| phenotype | cystic fibrosis | “Cystic Fibrosis (CF) in Arab Mediterranean countries has a different CFTR mutational profile if compared either to Caucasians or in the Arabian Peninsula.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.3909C>G | “The c.3909C>G (N1303K, p.Asn1303Lys) mutation of the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR).” | 0.95 | hgvs_regex_v1 |
Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.
PMID 32026723 | PMCID PMC7012030 | DOI 10.5144/0256-4947.2020.15 · Annals of Saudi medicine · 2020 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Asn1303Lys | “The ten most common variants identified in descending frequency were: p.Gly473GlufsX54 in 98 alleles (16%), p.Ile1234Val in 66 alleles (11%), F508del in 64 alleles (11%), 711+1G>T in 62 alleles (10%), 3120+1G>A in 62 alleles (11%), p.His139Leuin 38 alleles (6.4%), p.Gln637Hisfs in 30 alleles (5.2%), p.Ser549Arg in 27 alleles (4.5%), p.Asn1303Lys in 14 alleles (2.3%), delExon19-21in 10 alleles (1.6%).” | 0.95 | hgvs_regex_v1 |
| gene | CFTR | “OBJECTIVE: Determine the pattern of CFTR variants in the CF population of Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | cystic fibrosis | “Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia. BACKGROUND: Cystic fibrosis (CF) occurs in populations in Saudi Arabia and the Gulf area. OBJECTIVE: Determine the pattern of CFTR variants in the CF population of Saudi Arabia. PATIENTS AND METHODS: We examined the medical records of 396 confirmed CF patients of all age groups that were positive for a CFTR variant from the period of 1 January 1998 to 1 December 2017. The high prevalence of homozygous variants reflects the high level of consanguinity between parents. LIMITATIONS: Our CFTR screening reflected only about 80% of CF patients in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |