Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.Q109R
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MMUT

NM_000255.4:p.Q109R

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

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Merinero B et al.

Journal of Inherited Metabolic Disease, 2008

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

Martínez MA 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."