Gene Locus : human-DPP6
Mode of mutation : Natural mutant
Disease : Mental retardation, autosomal dominant 33
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.1153A-C transversion (c.1153A-C, NM_130797) rs786205143
| Title : Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation - Liao_2013_Eur.J.Med.Genet_56_484 |
| Author(s) : Liao C , Fu F , Li R , Yang WQ , Liao HY , Yan JR , Li J , Li SY , Yang X , Li DZ |
| Ref : Eur Journal of Medical Genetics , 56 :484 , 2013 |
| Abstract : |
| PubMedSearch : Liao_2013_Eur.J.Med.Genet_56_484 |
| PubMedID: 23832105 |
| Gene_locus related to this paper: human-DPP6 |