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Full registry entry

Patient Id

 UMHA1021

Inhibitors

 ?

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 INTRON

Exon inton number

 4

Affected Codon

 -

Affected nucleotide

 -

Mutation AA

 ERRROR DE SPLICING

Mutation Nuc

 IVS4+1delG

Original-final codons

 IVS4+1delG

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 701

 

   
 

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