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Full registy entry

Patient Id

 UMHB0051

Inhibitors

 ?

Mutation Type

 DELETION

Gen

 FIX

Mutation effect

 SPLICING ERROR

Region

 INTRON

Exon inton number

 2

Affected Codon

 -

Affected nucleotide

 6492-6495

Mutation AA

 SPLICING ERROR

Mutation Nuc

 IVS2+3-6delGAGT

Original-final codons

 CA/gtgagta>CA/gta

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MODERATE

FactorC(%)

 4

FactorAg(%)

 -

Origin

 ?

ID

 360

 

   
 

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