Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.A96T
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KCNJ11

NM_000525.4:p.A96T

Associated Papers

Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review.

Ba T et al.

Clinical Endocrinology, 2024

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism.

Wieland I et al.

Frontiers in Endocrinology, 2022

Case report: contradictory genetics and imaging in focal congenital hyperinsulinism reinforces the need for pancreatic biopsy.

Yau D et al.

International Journal of Pediatric Endocrinology, 2020

Targeted sequencing identifies novel variants in common and rare MODY genes.

de Santana LS et al.

Molecular Genetics & Genomic Medicine, 2019

Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions.

Craigie RJ et al.

Frontiers in Endocrinology, 2018

Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.

Mohnike K et al.

Hormone Research in Paediatrics, 2014

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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."