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Comments |
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Unclassified
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260A>C
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Y87S
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Yes
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USA
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Montgomery
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Type 2N
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2384A>G
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Y795C
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Yes
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France
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French Network
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Mutation associated with R854Q on the ot More ...
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Type 2N
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2384A>G
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Y795C
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Yes
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Germany
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Schneppenheim
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Patient also compound heterozygous for 4 More ...
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Type 3
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1830C>A
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Y610X
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No
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Italy
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Federici / Mannucci
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Patient compound heterozygous with mutat More ...
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Type 2N
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1071C>A
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Y357X
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No
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France
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Mazurier
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Type 3
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7176T>G
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Y2392X
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No
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Turkey
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Peake
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This mutation was found in two type 3 VW More ...
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Type 1
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4751A>G
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Y1584C
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Yes
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Canada
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Lillicrap
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Previously reported as a polymorphism.
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Type 1
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4751A>G
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Y1584C
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No
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EU
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MCMDM-1VWD
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Mutation associated with a normal multim More ...
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Type 1
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4751A>G
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Y1584C
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No
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Spain
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Batlle
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VWF:Ag 30 IU/dL, VWF:RCo 40 IU/dL, FVIII More ...
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Type 3
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4626C>G
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Y1542X
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No
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Italy
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Federici/Mannucci
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Patient homozygous for the nonsense muta More ...
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Type 3
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4368C>A
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Y1456X
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No
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China
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Hongli Wang
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Mutation found in a heterozygous state i More ...
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Type 1
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4368C>G
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Y1456X
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No
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Turkey
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Peake
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Family was supplied by Dr. J. Ingerslev, More ...
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Type 2A
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3814_3815insATTTCTACT
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Y1271_C1272insYFY
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No
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Turkey
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Peake
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Family was supplied by Dr. J. Ingerslev, More ...
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Type 3
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375_376delGTinsC
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Y126TfsX49
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No
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Spain
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Vidal
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Homozygous mutation inherited in cis wit More ...
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Type 2A
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3437A>G
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Y1146C
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Yes
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Germany
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Schneppenheim
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VWF:Ag 0.20+/-0.07; VWF:CB 0.16+/-0.06; More ...
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Type 1 (Type 2A)
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3437A>G
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Y1146C
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No
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EU
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MCMDM-1VWD
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Mutation associated with an abnormal mul More ...
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Type 1
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3437A>G
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Y1146C
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No
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Canada
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Lillicrap
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Unclassified
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3320A>G
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Y1107C
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Yes
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France-Switzerland
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Mazurier
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Mutation described as type 2Q-Bern subty More ...
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Type 3
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1926G>A
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W642X
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No
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India
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Federici / Mannucci
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Patient compound heterozygous with mutat More ...
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Type 1
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1926G>A
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W642X
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No
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Canada
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Lillicrap
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