Varaico: Literature-Extracted Genetic Variants

Gene:DLST
Variant:p.E90K
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DLST

NM_001933.5:p.E90K

Associated Papers

Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.

Schmiesing J et al.

Human Molecular Genetics, 2017

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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."