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Full registy entry

Patient Id

 URHB004

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 8

Affected Codon

 252

Affected nucleotide

 30875

Mutation AA

 R252X

Mutation Nuc

 30875C>T

Original-final codons

 CGA > TGA

Affected domain

 -

Refrence

 -

AA change

 Arg > STOP

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 5

 

   
 

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