ABCC8 p.Leu1147Arg
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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."
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57
Patient Gender Gene Nucleotide Amino acid Zygosity 1 M ABCC8 c.3440TNG, c.4135CNT p.Leu1147Arg, p.Arg1379Cys Comp HET 2 M EIF2AK3 c.1267dup p.Ile423Asnfs*26 HOMO 3 M GATA6 c.1088_1098del p.Gln363Argfs*96 HET 4 F KCNJ11 c.602GNA p.Arg201His HET 5 F KCNJ11 c.5TNC p.Leu2Pro HET 6 M RFX6 c.779ANC p.Lys260Thr HOMO 7 F FOXP3 c.1044+5GNA p.?
X
ABCC8 p.Leu1147Arg 25306193:57:84
status: NEW