Varaico: Literature-Extracted Genetic Variants

Gene:IVD
Variant:p.R411Q
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IVD

NM_002225.5:p.R411Q

Associated Papers

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.

Vockley J et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2006

Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.

Mohsen AW et al.

Biochemistry, 1998

Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.

D'Annibale OM 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."