Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.N163D
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MCCC2

NM_022132.5:p.N163D

Associated Papers

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

Fonseca H et al.

Gene, 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."