Gene Locus : human-SERAC1
Mode of mutation : Natural mutant
Disease : MEGDEL syndrome
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.Arg387X found in compound heterozygote patient with p.Ser498Thr
| Title : MEGDEL Syndrome and Its Anesthetic Implications - Horvath_2021_Cureus_13_e17761 |
| Author(s) : Horvath B , Pfister KM , Rupp A , Kloesel B |
| Ref : Cureus , 13 :e17761 , 2021 |
| Abstract : |
| PubMedSearch : Horvath_2021_Cureus_13_e17761 |
| PubMedID: 34540505 |
| Gene_locus related to this paper: human-SERAC1 |