Molecular Data
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Type Of Mutation
Genic Region
Nucleotide change
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Aminoacid change
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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
54
Missense
E28
4135C>T
4135
R1379C
1379
A1
Corrales et al. 2009