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Full registy entry

Patient Id

 UMHB0100

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 8

Affected Codon

 250

Affected nucleotide

 30869

Mutation AA

 V250L

Mutation Nuc

 30869G>C

Original-final codons

 GTG>CTG

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

  

ID

 397

 

   
 

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