Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.T171A
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KCNJ11

NM_000525.4:p.T171A

Associated Papers

Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.

Zhou Q et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India.

Murthy MC et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2024

Concerted gating mechanism underlying KATP channel inhibition by ATP.

Drain P et al.

Biophysical Journal, 2004

The I182 region of k(ir)6.2 is closely associated with ligand binding in K(ATP) channel inhibition by ATP.

Li L et al.

Biophysical Journal, 2000

Molecular determinants of KATP channel inhibition by ATP.

Tucker SJ et al.

The Embo Journal, 1998

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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."