Varaico: Literature-Extracted Genetic Variants

Gene:IVD
Variant:p.G123E
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IVD

NM_002225.5:p.G123E

Associated Papers

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.

Hertecant JL et al.

European Journal of Medical Genetics, 2012

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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."