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Full registy entry

Patient Id

 URHB016

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 SPLICING ERROR

Region

 INTRON

Exon inton number

 3

Affected Codon

 -

Affected nucleotide

 10389

Mutation AA

 -

Mutation Nuc

 IVS3-3A>G

Original-final codons

 aag/AT > gag/AT

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 SEVERE

FactorC(%)

 0,3

FactorAg(%)

 -

Origin

  

ID

 10

 

   
 

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