Varaico: Literature-Extracted Genetic Variants

Gene:CYCS
Variant:p.L99F
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CYCS

NM_018947.6:p.L99F

Associated Papers

Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.

Platt I et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Mitochondrial haplogroup J associated with higher risk of obesity in the Qatari population.

Dashti M et al.

Scientific Reports, 2021

Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series.

Tang Z et al.

Frontiers in Neurology, 2021

Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.

Wang Z et al.

Neuromuscular Disorders : Nmd, 2016

Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.

Zhu M et al.

Journal of Human Genetics, 2014

Decreased reactive oxygen species production in cells with mitochondrial haplogroups associated with longevity.

Chen A et al.

Plos One, 2012

Evolution and disease converge in the mitochondrion.

Mishmar D et al.

Biochimica Et Biophysica Acta, 0

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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."