Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.E432A
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MMUT

NM_000255.4:p.E432A

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

A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.

Kang L et al.

Journal of Inherited Metabolic Disease, 2020

[Clinical features and gene mutation spectrum in children with sideroblastic anemia].

An WB et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.

Han LS et al.

World Journal of Pediatrics : Wjp, 2015

[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].

Ye J et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013

Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.

Liu MY et al.

Jimd Reports, 2012

[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].

Wang F et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009

[Clinical and mutational study of a Chinese infant with isovaleric acidemia].

Qiu WJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008

[Gene mutation analysis in patients with propionic acidemia].

Hu YH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008

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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."