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 :
c.1502-1G>C from the maternal side, c.227-228dupAT from the paternal side
| Title : Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome - Su_2021_Front.Pediatr_9_713458 |
| Author(s) : Su Y , Zhang H , Wang H , Wu B , Yang J , Zhou W , Li L |
| Ref : Front Pediatr , 9 :713458 , 2021 |
| Abstract : |
| PubMedSearch : Su_2021_Front.Pediatr_9_713458 |
| PubMedID: 34660482 |
| Gene_locus related to this paper: human-SERAC1 |