Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.E250K
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MMAA

NM_172250.3:p.E250K

Associated Papers

Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.

Plessl T et al.

Human Mutation, 2017

High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.

Dempsey-Nunez L 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."