H63D
· 6 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | H63D | “Whole-Exome Sequencing Detecting a Recurrent Pathogenic Mutation, HFE p.His63Asp (H63D) in COVID-19 Patients and Its Effect on Mortality.” | 0.82 | literature_variant_regex_v2 |
| variant | H63D | “Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major. [No Abstract Available].” | 0.82 | literature_variant_regex_v2 |
| variant | H63D | “Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.” | 0.82 | literature_variant_regex_v2 |
| variant | H63D | “METHODS: C282Y/H63D mutations of HFE gene were evaluated in 560 HD patients and 480 healthy controls from 4 HD centers in North China.” | 0.82 | literature_variant_regex_v2 |
| variant | H63D | “Classical HH is associated with mutations in HFE (C282Y homozygotes or C282Y/H63D compound heterozygotes) and is almost exclusively found in populations of northern European descent.” | 0.82 | literature_variant_regex_v2 |
| variant | H63D | “OBJECTIVE: To assess the frequency of 2 different forms of hemochromatosis HFE gene mutations (C282Y and H63D mutations) in a normal population in comparison with type 2 diabetic patients.” | 0.82 | literature_variant_regex_v2 |