Global Variome shared LOVD

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Phenotype #0000078468 Individual ID 00100231 Associated disease VWD2 Inheritance Familial, autosomal dominant Diagnosis/Initial - Disease/Sub-type type 2A Diagnosis/Definite - Phenotype details 2A(IIE) Protein VWF:Ag 8; VWF:RCo 4; FVIII:C 10; VWF:CB 2; VWFpp 81 Protein/Multimer_profile Relative decrease in HMW (low res);Reduced/absent satellite bands (high res) BleedingScore 2 BleedingScore/Tool MCMDM-1VWD Owner name Daniel J Hampshire Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Daniel J Hampshire Date created 2017-02-07 15:09:34 +01:00 (CET) Date last edited N/A

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