Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification : Natural mutation || Silent variant
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
ATG>ACG p.Met1Thr Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
| Title : Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children - Mestek-Boukhibar_2018_J.Med.Genet_55_721 |
| Author(s) : Mestek-Boukhibar L , Clement E , Jones WD , Drury S , Ocaka L , Gagunashvili A , Le Quesne Stabej P , Bacchelli C , Jani N , Rahman S , Jenkins L , Hurst JA , Bitner-Glindzicz M , Peters M , Beales PL , Williams HJ |
| Ref : Journal of Medical Genetics , 55 :721 , 2018 |
| Abstract : |
| PubMedSearch : Mestek-Boukhibar_2018_J.Med.Genet_55_721 |
| PubMedID: 30049826 |