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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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