Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.S189fs
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MMAA

NM_172250.3:p.S189fs

Associated Papers

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

Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway.

Richard E et al.

The Journal of Pathology, 2007

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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."