Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.M1I
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CAT

NM_001752.4:p.M1I

Associated Papers

Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Santos R et al.

Antioxidants & Redox Signaling, 2010

Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

Tornovsky S et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Spontaneous mutation spectrum at the lambda cII locus in liver, lung, and spleen tissue of Big Blue transgenic mice.

Harbach PR et al.

Environmental and Molecular Mutagenesis, 1999

MEF-2 and Oct-1 bind to two homologous promoter sequence elements and participate in the expression of a skeletal muscle-specific gene.

Lakich MM et al.

The Journal of Biological Chemistry, 1998

Screening mutations in drug-resistant Mycobacterium tuberculosis strains in Yunnan, China.

Li D et al.

Journal of Infection and Public Health, 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."