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Full registy entry

Patient Id

 UMHB0155

Inhibitors

  

Mutation Type

 DELETION

Gen

 FIX

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 2

Affected Codon

 7

Affected nucleotide

 6394

Mutation AA

 FRAMESHIFT

Mutation Nuc

 6394delG

Original-final codons

 6394delG

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 757

 

   
 

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