ABCC8 p.Phe1392Val
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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.?
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ABCC8 p.Phe1392Val 25306193:133:4
status: NEW