Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.Y145H
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MCCC2

NM_022132.5:p.Y145H

Associated Papers

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.

Forsyth R et al.

Molecular Genetics and Metabolism, 2016

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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."