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Full registy entry
Patient Id
UMHB0088
Inhibitors
?
Mutation Type
SUSTITUTION
Gen
FIX
Mutation effect
MUTATION IN REGULATORY REGION
Region
EXON
Exon inton number
1
Affected Codon
-
Affected nucleotide
8
Mutation AA
FRAMESHIFT
Mutation Nuc
8T>C
Original-final codons
T>C
Affected domain
Refrence
AA change
Diagnostic lab
UDTM
Coagulopathy
HB
Severity
MILD
FactorC(%)
30
FactorAg(%)
Origin
ID
387
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