Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.M1V
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KCNJ11

NM_000525.4:p.M1V

Associated Papers

Diabetes management in Wolcott-Rallison syndrome: analysis from the German/Austrian DPV database.

Welters A et al.

Orphanet Journal of Rare Diseases, 2020

Congenital Hyperinsulinism Caused by Novel Homozygous KATP Channel Gene Variants May Be Linked to Unexplained Neonatal Deaths among Kurdish Consanguineous Families.

Amaratunga SA et al.

Hormone Research in Paediatrics, 2020

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

Arya VB et al.

European Journal of Endocrinology, 2014

Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.

Greer RM et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."