ISTH mutations

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
26	200	Type 2N	3460C>T	Q1154X	No	Spain	Vidal	Compound heterozygous mutation in trans with mutation p.R816W. VWF:Ag 93%, VWF:R More ...	Corrales et al., 2009