Same mutation
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VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
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Comments
Type 3 1534-3C>A L512PfsX11 No Italy Bertina / Eikenboom Acceptor slice site mutation 3' intron 1 More ...
Type 1 1534-3C>A L512PfsX11 No EU MCMDM-1VWD Mutation associated with a normal multim More ...