Varaico: Literature-Extracted Genetic Variants

Gene:MCCC1
Variant:p.Q445*
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MCCC1

NM_020166.5:p.Q445*

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

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

Morscher RJ et al.

Molecular Genetics and Metabolism, 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."