Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.Q398_I399Splc
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ACADM

NM_000016.6:p.Q398_I399Splc

Associated Papers

MCAD deficiency in Denmark.

Andresen BS et al.

Molecular Genetics and Metabolism, 2012

Alternative splicing and disease.

Tazi J et al.

Biochimica Et Biophysica Acta, 2009

A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation.

Bruun GH 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."