ABCC8 p.Ala726Thr
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PMID: 21378087
[PubMed]
Banerjee I et al: "The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism."
No.
Sentence
Comment
68
In total, three novel heterozygous ABCC8 variants of uncertain clinical significance, A726T (c.2176GOA), A978T (c.2932GOA) and c.3870C7GOA, were each identified in a single proband and the previously reported ABCC8 variant, c.-8GOT, was identified in two unrelated cases (17).
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ABCC8 p.Ala726Thr 21378087:68:86
status: NEW