Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.G161R
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MMUT

NM_000255.4:p.G161R

Associated Papers

[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

Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.

Han LS et al.

World Journal of Pediatrics : Wjp, 2017

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.

Forny P et al.

Human Mutation, 2016

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

[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."