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Full registy entry

Patient Id

 UMHB0085

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 SPLICING ERROR

Region

 INTRON

Exon inton number

 4

Affected Codon

 -

Affected nucleotide

 17660

Mutation AA

 FRAMESHIFT

Mutation Nuc

 IVS4-9T>G

Original-final codons

 IVS4-9T>G

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 ?

FactorC(%)

 12

FactorAg(%)

 -

Origin

 ?

ID

 386

 

   
 

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