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Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2

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Key Points VWD type 2 is the result of variants that lead to dysfunctional VWF. The vast majority of patients included in this large cohort (88%) had missense variants. Click to show full abstract

Key Points VWD type 2 is the result of variants that lead to dysfunctional VWF. The vast majority of patients included in this large cohort (88%) had missense variants.

Keywords: genetic characterizations; cohort von; phenotypic genetic; characterizations milan; von willebrand; milan cohort

Journal Title: Blood Advances
Year Published: 2022

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