Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.D156N
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MMUT

NM_000255.4:p.D156N

Associated Papers

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ006

Three novel and six common mutations in 11 patients with methylmalonic acidemia.

Kobayashi A et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2006

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 and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency.

Benoist JF et al.

Molecular Genetics and Metabolism, 2001

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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."