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Full registy entry

Patient Id

 URHB002

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 6

Affected Codon

 145

Affected nucleotide

 20413

Mutation AA

 R145C

Mutation Nuc

 20413C>T

Original-final codons

 CGT > TGT

Affected domain

 -

Refrence

 -

AA change

 Arg > Cys

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 3

 

   
 

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