ABCC8 p.Gly684Glu
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PMID: 20685672
[PubMed]
Bellanne-Chantelot C et al: "ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism."
No.
Sentence
Comment
106
1 FH This report ABCC8 Exon 14 c.2035_2036insCTGT p.Val679fs 1 DH hmz This report ABCC8 Exon 15 c.2051G/A p.Gly684Glu 1 FH This report ABCC8 Exon 15 c.2064G/A p.Trp688X 1 FH Giurgea et al, 200446 ABCC8 Intron 15 c.2116+2T/C p.?
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ABCC8 p.Gly684Glu 20685672:106:108
status: NEW109 1 FH This report ABCC8 Exon 14 c.2035_2036insCTGT p.Val679fs 1 DH hmz This report ABCC8 Exon 15 c.2051G/A p.Gly684Glu 1 FH This report ABCC8 Exon 15 c.2064G/A p.Trp688X 1 FH Giurgea et al, 200446 ABCC8 Intron 15 c.2116+2T/C p.?
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ABCC8 p.Gly684Glu 20685672:109:108
status: NEW