Varaico: Literature-Extracted Genetic Variants

Gene:ATRNL1
Variant:p.K1081K
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ATRNL1

NM_207303.4:p.K1081K

Associated Papers

Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center Experience

Papatya Çakır ED et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

Novel Mitochondrial Cytopathy Causing Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes Syndrome and Tubulointerstitial Nephropathy.

Dhawan S et al.

Cureus, 2024

Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report.

Naganuma T et al.

Molecular Genetics and Metabolism Reports, 2023

Case report: Transient lactate elevation by intravenous insulin infusion therapy for diabetic ketoacidosis in a patient with mitochondrial DNA 3243 A > G mutation: A glycolysis rebooting syndrome?

Ohwada W et al.

Frontiers in Cardiovascular Medicine, 2023

Hypertriglyceridemia as a main feature associated with 17q12 deletion syndrome-related hepatocyte nuclear factor 1β-maturity-onset diabetes of the young.

Thewjitcharoen Y et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2022

Chronic kidney disease caused by maternally inherited diabetes and deafness: a case report.

Tanaka K et al.

Cen Case Reports, 2021

Impaired ROS Scavenging System in Human Induced Pluripotent Stem Cells Generated from Patients with MERRF Syndrome.

Chou SJ et al.

Scientific Reports, 2016

A case of diabetes, deafness, cardiomyopathy, and central sleep apnea: novel mitochondrial DNA polymorphisms.

Sakaue S et al.

The Tohoku Journal of Experimental Medicine, 2002

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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."