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.L550SfsX19 Leu550SerfsTer19 c.1643_1646 dup ATCT. A four base pair duplication in exon 15
| Title : Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability - Radha Rama Devi_2018_Eur.J.Med.Genet_61_100 |
| Author(s) : Radha Rama Devi A , Lingappa L |
| Ref : Eur Journal of Medical Genetics , 61 :100 , 2018 |
| Abstract : Radha Rama Devi_2018_Eur.J.Med.Genet_61_100 |
| ESTHER : Radha Rama Devi_2018_Eur.J.Med.Genet_61_100 |
| PubMedSearch : Radha Rama Devi_2018_Eur.J.Med.Genet_61_100 |
| PubMedID: 28778788 |
| Gene_locus related to this paper: human-SERAC1 |