KCNJ11 readthrough variant in a patient with congenital hyperinsulinism
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KCNJ11 is one of the major causative genes for congenital hyperinsulinism (CHI) characterized by neonatal and infantile hypoglycemia. Although one readthrough KCNJ11 variant has been identified in a patient with CHI, the pathogenicity of the substitution has y... ...
