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Full registy entry
Patient Id
URHB046
Inhibitors
Mutation Type
SUSTITUTION
Gen
FIX
Mutation effect
MUTATION IN REGULATORY REGION
Region
PROMOTER
Exon inton number
-
Affected Codon
Affected nucleotide
-6
Mutation AA
Mutation Nuc
-6G>A
Original-final codons
-6G > A
Affected domain
Refrence
AA change
Diagnostic lab
UDTM
Coagulopathy
HB
Severity
MILD
FactorC(%)
40-50
FactorAg(%)
Origin
ID
19
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