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.S450dup Ser450dup c.1349_1350insATC homozygous
| Title : Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing - Theunissen_2017_J.Pediatr_182_371 |
| Author(s) : Theunissen TE , Sallevelt SC , Hellebrekers DM , de Koning B , Hendrickx AT , van den Bosch BJ , Kamps R , Schoonderwoerd K , Szklarczyk R , Mulder-Den Hartog EN , de Coo IF , Smeets HJ |
| Ref : J Pediatr , 182 :371 , 2017 |
| Abstract : Theunissen_2017_J.Pediatr_182_371 |
| ESTHER : Theunissen_2017_J.Pediatr_182_371 |
| PubMedSearch : Theunissen_2017_J.Pediatr_182_371 |
| PubMedID: 28081892 |
| Gene_locus related to this paper: human-SERAC1 |