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Comments |
Unclassified
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7599T>A
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C2533X
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No
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China
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Prof. Hongli Wang
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VWF:Rcof 4%; VWF:CB 5%; VWF:Ag 10%
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Unclassified
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3380-298_5843-1385del
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P1127_C1948delinsR
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No
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Italy
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Bernardi
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Result of Alu-mediated homologous recomb More ...
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Unclassified
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3702T>G
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C1234W
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No
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France
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French Network
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Unclassified
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7408C>T
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Q2470X
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No
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France
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French Network
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Mutation could be associated with type 2 More ...
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Unclassified
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4120C>A
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R1374S
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No
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France
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French Network
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Unclassified
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4135C>T
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R1379C
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?
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Spain
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Casana
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Unclassified
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4120C>T
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R1374C
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Yes
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France
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Mazurier
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Unclassified
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1730-2A>G
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Not Applicable
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No
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China
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Prof. Hongli Wang
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Splice site mutation results in deletion More ...
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Unclassified
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3614G>T
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R1205L
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Yes
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France
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French Network
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The R1205H mutation is reported as type More ...
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Unclassified
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8416T>C
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C2806R
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Yes
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USA
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Montgomery
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VWF:RCo <12 U/dl, VWF:Ag 30 U/dl, 1 ban More ...
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Unclassified
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4105T>A
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F1369I
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No
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Normal multimers, decreased ristocetin c More ...
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Unclassified
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4121G>A
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R1374H
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No
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Netherlands
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Bertina
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Mutation associated with thrombocytopeni More ...
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Unclassified
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5191T>A
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S1731T
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Yes
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France
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French Network
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New variant of VWD with a defective bind More ...
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Unclassified
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3943C>T
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R1315C
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Yes
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France
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French Network
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rVWF shows decreased binding to GPIb.
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Unclassified
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4121G>A
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R1374H
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Yes
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France
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Mazurier
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Unclassified
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4121G>T
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R1374L
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Yes
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France & Algeria
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French Network
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One patient is compound heterozygous; R1 More ...
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Unclassified
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4384C>G
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P1462A
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No
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France
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French Network
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Unclassified
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4195C>T
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R1399C
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No
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France
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French Network
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One patient is homozygous, one patient i More ...
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Unclassified
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4148T>G
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L1383R
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No
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France
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French Network
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Unclassified
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6620T>C
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L2207P
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No
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France
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French Network
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The patient displays normal VWF multimer More ...
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