Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.M149I
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ACADM

NM_000016.6:p.M149I

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

Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

Tucci S et al.

Journal of Inherited Metabolic Disease, 2021

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

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
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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."