Varaico: Literature-Extracted Genetic Variants

Gene:ENO3
Variant:p.G374E
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ENO3

NM_053013.4:p.G374E

Associated Papers

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

The sarcomeric M-region: a molecular command center for diverse cellular processes.

Hu LY et al.

Biomed Research International, 2015

Effects of the G376E and G157D mutations on the stability of yeast enolase--a model for human muscle enolase deficiency.

Zhao S et al.

The Febs Journal, 2008

Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.

Comi GP et al.

Annals of Neurology, 2001

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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."