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Full registy entry

Patient Id

 URHB093

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 2

Affected Codon

 10

Affected nucleotide

 6404

Mutation AA

 V10D

Mutation Nuc

 6404T>A

Original-final codons

 GTT>GAT

Affected domain

 -

Refrence

 -

AA change

 Val>Asp

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MODERATE

FactorC(%)

 4

FactorAg(%)

 -

Origin

  

ID

 36

 

   
 

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