Varaico: Literature-Extracted Genetic Variants

Gene:PLXNA2
Variant:p.K1081K
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PLXNA2

NM_025179.4:p.K1081K

Associated Papers

Arginine for the Treatment of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes: A Systematic Review.

Argudo JM et al.

Cureus, 2022

Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation.

Oishi N et al.

Ophthalmic Genetics, 2021

The Spectrum of Maculopathy in Mitochondrial DNA A3243G Mutation: A Case Series of Six Patients.

Kaisari E et al.

Klinische Monatsblatter Fur Augenheilkunde, 2021

Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders.

Oh JK et al.

Investigative Ophthalmology & Visual Science, 2020

Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome.

Ozawa K et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2019

Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature.

Daruich A et al.

Bmc Ophthalmology, 2014

Macular dystrophies mimicking age-related macular degeneration.

Saksens NT et al.

Progress in Retinal and Eye Research, 2014

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.

El-Hattab AW et al.

Molecular Genetics and Metabolism, 2012

Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.

Doi N et al.

Plos One, 2009

Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox".

Naini A et al.

Journal of the Neurological Sciences, 2005

The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease.

Bonham JR et al.

Journal of Inherited Metabolic Disease, 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."