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1 records shown · first 60Phenotypic and Genotypic Characterization of von Willebrand Factor Gene (Exon 18 and 20) in Saudi Healthy Individuals.
PMID 33424085 | PMCID PMC7780826 | DOI 10.5455/medarh.2020.74.337-341 · Medical archives (Sarajevo, Bosnia and Herzegovina) · 2020 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs775479826 | “RESULTS: In exon 18 of healthy people, three unusual sequence variations (1 missense and 2 synonymous; rs775479826, rs1286572448 and rs369828268) compared to other recorded VWF variations (3 missense and 1 synonymous; c.2365A > G, c.2385T > C, c.2344C > T and c.2340C > G).” | 0.90 | hgvs_regex_v1 |
| gene | VWF | “In Saudi Arabia, the genotyping of the VWF gene is necessary to establish a diagnosis procedure for VWD.” | 0.98 | hgnc_dict_v1 |
| phenotype | von Willebrand disease | “INTRODUCTION: Von Willebrand disease (VWD) is an autosomal congenital bleeding syndrome that was described as being the most widespread genetic condition among men.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Phenotypic and Genotypic Characterization of von Willebrand Factor Gene (Exon 18 and 20) in Saudi Healthy Individuals. In Saudi Arabia, the genotyping of the VWF gene is necessary to establish a diagnosis procedure for VWD. CONCLUSION: The present variants found on those participates could be a realistic approach to detect mutation in the VWF gene to illustrating the relationship of phenotypic and genetic abnormalities variables may lead to determining the functional effect in mutations specific to the Saudi people that can be used to develop a diagnostic tool for VWD in KSA.” | 0.95 | saudi_context_rules_v1 |