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Full registy entry

Patient Id

 URHB037

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 7

Affected Codon

 233

Affected nucleotide

 30150

Mutation AA

 A233T

Mutation Nuc

 30150G>A

Original-final codons

 GCA>ACA

Affected domain

 -

Refrence

 -

AA change

 Ala>Thr

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 16

 

   
 

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