Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.S173fs
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MCCC2

NM_022132.5:p.S173fs

Associated Papers

Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.

Bhattacharjee A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

Baumgartner MR et al.

The Journal of Clinical Investigation, 2001

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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."