Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.G352fs
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MCCC2

NM_022132.5:p.G352fs

Associated Papers

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Grünert SC et al.

Orphanet Journal of Rare Diseases, 2012

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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."