Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.K341insFs
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MMAA

NM_172250.3:p.K341insFs

Associated Papers

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

Hörster F et al.

Journal of Inherited Metabolic Disease, 2021

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."