ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
46	200	Type 1 / 3	7730-1G>C	Not Determined	Yes	Spain	Vidal	Compound heterozygous mutation in trans with mutation p.R854Q (type 1: VWF:Ag 40 More ...	Corrales et al., 2009