Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.L89insFs
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MMAA

NM_172250.3:p.L89insFs

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

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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."