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1 records shown · first 60Phenotypic and Genotypic Signatures of VWF Exon 18 in Eastern Saudi Patients Previously Diagnosed with Type 1 von Willebrand Disease.
PMID 35677804 | PMCID PMC9170233 | DOI 10.2147/IJGM.S364818 · International journal of general medicine · 2022 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.2385T>C | “In addition, five gene variants were reported in VWF exon 18; of these, c.2365A>G and c.2385T>C were more common in the control group and might be protective from VWD.” | 0.95 | hgvs_regex_v1 |
| gene | VWF | “Phenotypic and Genotypic Signatures of VWF Exon 18 in Eastern Saudi Patients Previously Diagnosed with Type 1 von Willebrand Disease.” | 0.98 | hgnc_dict_v1 |
| gene | ABO | “Blood samples were collected from all participants to measure activated partial thromboplastin time test (APTT), von Willebrand antigen level (VWF:Ag), Factor VIII activity (FVIII:C) and ristocetin cofactor activity (VWF:RCo), platelet count, determining the ABO blood group and for genetic analysis by Sanger sequencing.” | 0.98 | hgnc_dict_v1 |
| phenotype | von Willebrand disease | “Phenotypic and Genotypic Signatures of VWF Exon 18 in Eastern Saudi Patients Previously Diagnosed with Type 1 von Willebrand Disease.” | 0.98 | phenotype_alias_lexicon_v2 |