Varaico: Literature-Extracted Genetic Variants

Gene:IVD
Variant:p.L42P
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IVD

NM_002225.5:p.L42P

Associated Papers

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

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

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

Ensenauer R et al.

American Journal of Human Genetics, 2004

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

Mohsen AW et al.

Biochemistry, 1998

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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."