Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.S167P
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ACADM

NM_000016.6:p.S167P

Associated Papers

Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene.

McKinney JT et al.

Molecular Genetics and Metabolism, 2004

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

Busquets C et al.

Pediatric Research, 2000

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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."