Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.G188R
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MMAA

NM_172250.3:p.G188R

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

Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.

Froese DS et al.

The Journal of Biological Chemistry, 2010

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Merinero B et al.

Journal of Inherited Metabolic Disease, 2008

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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."