Associated Papers
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
40225155 (PubMed )
Supplement: 8857940.f1.pdf
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Bennett JT et al.
Molecular Genetics and Metabolism, 2015
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
Kapoor RR et al.
European Journal of Endocrinology, 2013
23345197 (PubMed )
Supplement: supp_EJE-12-0673_EJE_120673_Suppl_Table.pdf
Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes.
Yorifuji T et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
Bellanné-Chantelot C et al.
Journal of Medical Genetics, 2010
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