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Full registy entry

Patient Id

 UMHB0185

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 1

Affected Codon

 -19

Affected nucleotide

 111

Mutation AA

 C-19G

Mutation Nuc

 111T>G

Original-final codons

 TGT>GGT

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MILD

FactorC(%)

 48

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 766

 

   
 

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