Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.E205K
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MMUT

NM_000255.4:p.E205K

Associated Papers

Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.

Lu F et al.

Pediatric Research, 2025

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, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.

Zhang C et al.

Scientific Reports, 2020

Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China.

Han B et al.

Pediatrics and Neonatology, 2020

[Analysis of MUT gene mutations and prenatal diagnosis for 20 pedigrees affected with isolated methylmalonic aciduria].

Hu S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018

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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."