Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.V368D
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MMUT

NM_000255.4:p.V368D

Associated Papers

Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.

Sakamoto O et al.

Journal of Human Genetics, 2007

Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

Acquaviva C et al.

Human Mutation, 2005

Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.

Mikami H et al.

Journal of Human Genetics, 1999

Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.

Ledley FD et al.

Human Mutation, 1997

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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."