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Full registy entry

Patient Id

 UMHB0017

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 8

Affected Codon

 376

Affected nucleotide

 31249

Mutation AA

 FRAMESHIFT

Mutation Nuc

 31249C>GA

Original-final codons

 C>GA

Affected domain

 -

Refrence

 -

AA change

 CANVI DE MARC DE LECTURA

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 SEVERE

FactorC(%)

 1

FactorAg(%)

 -

Origin

  

ID

 1

 

   
 

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