Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.N189K
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MMUT

NM_000255.4:p.N189K

Associated Papers

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.

Yu Y et al.

Molecular Genetics & Genomic Medicine, 2021

Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.

Keyfi F et al.

Molecular Biology Reports, 2019

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

Worgan LC et al.

Human Mutation, 2006

Mutation analysis of the MCM gene in Korean patients with MMA.

Jung JW et al.

Molecular Genetics and Metabolism, 2005

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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."