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Full registry entry

Patient Id

 UMHA1104

Inhibitors

 ?

Mutation Type

 INSERTION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 7

Affected Codon

 275-276

Affected nucleotide

 883-884

Mutation AA

 275-276InsS

Mutation Nuc

 883-884Ins CAT

Original-final codons

 883-884Ins CAT

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 5

FactorAg(%)

 -

Origin

 ?

ID

 728

 

   
 

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