Varaico: Literature-Extracted Genetic Variants

Gene:APEX1
Variant:p.K31K
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APEX1

NM_001641.4:p.K31K

Associated Papers

Quantum mechanics as a tool to decipher the mutational landscape of human disease.

Zavitsanou EI et al.

Progress in Biophysics and Molecular Biology, 2026

A rare genetic variant in APEX1 is associated with familial amyotrophic lateral sclerosis with slow progression.

Mi Y et al.

Acta Neurologica Belgica, 2025

MLH1 and XRCC1 polymorphisms in Mexican patients with colorectal cancer.

Muñiz-Mendoza R et al.

Genetics and Molecular Research : Gmr, 2012

Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer.

Tomlinson IP et al.

Mutagenesis, 2012

Nuclear localization of human SOD1 and mutant SOD1-specific disruption of survival motor neuron protein complex in transgenic amyotrophic lateral sclerosis mice.

Gertz B et al.

Journal of Neuropathology and Experimental Neurology, 2012

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.

Andersen PM et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2003

Oxidative stress and motor neurone disease.

Cookson MR et al.

Brain Pathology (zurich, Switzerland), 1999

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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."