Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.M1_L2insFs
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MMUT

NM_000255.4:p.M1_L2insFs

Associated Papers

Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect.

Fernández-Lainez C et al.

Molecular Genetics and Metabolism Reports, 2024

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

Worgan LC et al.

Human Mutation, 2006

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.

Morel CF et al.

Molecular Genetics and Metabolism, 0

[Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].

Méndez ST et al.

Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 0

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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."