Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.D258N
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MMAA

NM_172250.3:p.D258N

Associated Papers

Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.

Hörster F et al.

Journal of Inherited Metabolic Disease, 2021

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

Plessl T et al.

Human Mutation, 2017

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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."