Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.V185delFs
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ABCC8

NM_000352.6:p.V185delFs

Associated Papers

Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.

Arya VB et al.

European Journal of Endocrinology, 2014

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
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