Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
Ref.
Mutation comments
Clinical Data ISTH mutations 167 PSSM I5 533-2A>G - - - - Corrales et al. 2011 In homozygosis
Clinical Data ISTH mutations 167 Missense E14 1625C>G 1625 A542G 542 D2 Corrales et al. 2010 In homozygosis