Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.I375T
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ACADM

NM_000016.6:p.I375T

Associated Papers

Structural insights into the pathogenicity of point mutations in human acyl-CoA dehydrogenase homotetramers.

Faraji H et al.

Journal of Biological Physics, 2024

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.

Gregersen N et al.

European Journal of Biochemistry, 2004

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

Andresen BS et al.

Human Molecular Genetics, 1997

Prenatal diagnosis of mitochondrial fatty acid oxidation defects.

Nada MA et al.

Prenatal Diagnosis, 1996

Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels.

Iolascon A et al.

Journal of Medical Genetics, 1994

Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia.

Van Hove JL et al.

Pediatric Research, 1994

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.

Rhead WJ

Journal of Inherited Metabolic Disease, 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."