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Full registry entry

Patient Id

 URHA382

Inhibitors

  

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 14

Affected Codon

 1194

Affected nucleotide

 3637

Mutation AA

 FRAMESHIFT

Mutation Nuc

 3637delA

Original-final codons

 delA

Affected domain

 B

Refrence

 -

AA change

 CANVI DE MARC DE LECTURA

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

  

ID

 199

 

   
 

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