Gene Locus : human-PREPL
Mode of mutation : Natural mutant
Disease : Myasthenic syndrome, congenital, 22\; CMS22
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 : c.342delA:p.Val115Leufs*39 female patient with a novel homozygous frameshift mutation
| Title : The second point mutation in PREPL: a case report and literature review - Silva_2018_J.Hum.Genet_63_677 |
| Author(s) : Silva S , Miyake N , Tapia C , Matsumoto N |
| Ref : J Hum Genet , 63 :677 , 2018 |
| Abstract : Silva_2018_J.Hum.Genet_63_677 |
| ESTHER : Silva_2018_J.Hum.Genet_63_677 |
| PubMedSearch : Silva_2018_J.Hum.Genet_63_677 |
| PubMedID: 29483676 |
| Gene_locus related to this paper: human-PREPL |