Varaico: Literature-Extracted Genetic Variants

Gene:IVD
Variant:p.R50L
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IVD

NM_002225.5:p.R50L

Associated Papers

Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.

Vockley J et al.

American Journal of Human Genetics, 1991

Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.

Lee YW et al.

Molecular Genetics and Metabolism, 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."