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 196 Missense E28 3788C>T 3788 S1263L 1263 Interdomain Corrales et al. 2012 No mutation identified in the 2N region