Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.P194L
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MMUT

NM_000255.4:p.P194L

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

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Wang T et al.

Frontiers in Genetics, 2019

Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations.

Zhou W et al.

Frontiers in Genetics, 2018

Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.

Chu J et al.

Molecular Genetics and Metabolism, 2016

[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia].

Xie B et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016

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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."