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Full registry entry

Patient Id

 UMHA0588

Inhibitors

 ?

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 14

Affected Codon

 1441

Affected nucleotide

 4380

Mutation AA

 FRAMESHIFT

Mutation Nuc

 4380delT

Original-final codons

 4380delT

Affected domain

 B

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 347

 

   
 

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