Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.M1I
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KCNJ11

NM_000525.4:p.M1I

Associated Papers

Monogenic diabetes.

Horikawa Y et al.

Diabetology International, 2024

Identifying Pathogenic Variants of Monogenic Diabetes Using Targeted Panel Sequencing in an East Asian Population.

Park SS et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.

Barzaghi F et al.

Frontiers in Immunology, 2012

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.

Støy J et al.

Reviews in Endocrine & Metabolic Disorders, 2010

Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.

Wiedemann B et al.

Pediatric Diabetes, 2010

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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."