Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C1225Splc
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VWF

NM_000552.5:p.C1225Splc

Associated Papers

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort.

Hampshire DJ et al.

Haematologica, 2010

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