Varaico: Literature-Extracted Genetic Variants

Gene:ENO3
Variant:p.E187K
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ENO3

NM_053013.4:p.E187K

Associated Papers

The need for biochemical testing in beta-enolase deficiency in the genomic era.

Wigley R et al.

Jimd Reports, 2019

Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

Musumeci O et al.

Journal of Neurology, 2014

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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."