Varaico: Literature-Extracted Genetic Variants

Gene:IVD
Variant:p.L394F
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IVD

NM_002225.5:p.L394F

Associated Papers

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."