Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.D172fs
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MCCC2

NM_022132.5:p.D172fs

Associated Papers

A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I.

Matsumori M et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2005

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.

Desviat LR et al.

Molecular Genetics and Metabolism, 2003

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

Gallardo ME et al.

American Journal of Human Genetics, 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."