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2 records shown · first 60Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.
PMID 31522215 | PMCID PMC6790492 | DOI 10.15537/smj.2019.9.24482 · Saudi medical journal · 2019 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.H63D | “The p.H63D mutation was observed in 23 (11.3%) cases, out of which 19 cases were heterozygous for p.H63D and 4 cases were homozygous.” | 0.95 | hgvs_regex_v1 |
| gene | HFE | “Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | p.C282Y | “In the case of p.C282Y, neither homozygous nor heterozygous mutation was found in patients or in controls.” | 0.95 | hgvs_regex_v1 |
Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.
PMID 16672055 | PMCID PMC1468397 | DOI 10.1186/1471-2350-7-43 · BMC medical genetics · 2006 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.H63D | “Two popular mutations in HFE, p.C282Y and p.H63D, have been discovered and found to associate with HH in different ethnic backgrounds. p.C282Y and p.H63D diagnosis is usually made by restriction enzyme analysis.” | 0.95 | hgvs_regex_v1 |
| gene | HFE | “Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.” | 0.95 | saudi_context_rules_v1 |
| variant | p.C282Y | “Two popular mutations in HFE, p.C282Y and p.H63D, have been discovered and found to associate with HH in different ethnic backgrounds. p.C282Y and p.H63D diagnosis is usually made by restriction enzyme analysis.” | 0.95 | hgvs_regex_v1 |