Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.C189_R191insFs
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MMAB

NM_052845.4:p.C189_R191insFs

Associated Papers

Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.

Dobson CM et al.

Molecular Genetics and Metabolism, 2006

Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.

Lerner-Ellis JP et al.

Molecular Genetics and Metabolism, 2006

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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."