Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.E288K
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KCNJ11

NM_000525.4:p.E288K

Associated Papers

Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel.

Doğan M et al.

Molecular Biology Reports, 2022

Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism.

Güven A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2016

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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."