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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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1 records shown · first 60Frequency 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.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 |
| 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.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 |