ABCC8 p.Phe1392Val

[switch to full view]
Comments [show]
Publications
PMID: 25306193 [PubMed] Alkorta-Aranburu G et al: "Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach."
No. Sentence Comment
133 ; p.Phe1392Val HET; HET 6 months Insulina 1 25 M H EIF2AK3 NM_004836 c.2758CNTb p.Gln920* HOMO 3 months Insulin 1 26 M H GCK NM_000162.3 c.706GNA p.Glu236Lys HOMO Birth Insulin 1 27 M W HNF1A NM_000545.5 c.391CNT p.Arg131Trp HET 10 years Insulina 1 28 M W HNF1A NM_000545.5 c.586ANG p.Thr196Ala HET 3 years None 3 29 F W GCK NM_000162.3 c.863+1GNAb p.?
X
ABCC8 p.Phe1392Val 25306193:133:4
status: NEW
Login to comment