Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.M1304V
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VWF

NM_000552.5:p.M1304V

Associated Papers

Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methods.

Woods AI et al.

American Journal of Medical Genetics. Part A, 2024

Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Kalot MA et al.

Blood Advances, 2022

35192687 (PubMed )
Supplement: advancesADV2021005431C-suppl1.pdf

Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease.

Chen J et al.

Blood, 2015

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