Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.K251N
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MMUT

NM_000255.4:p.K251N

Associated Papers

Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.

Liang L et al.

Journal of Medical Genetics, 2023

Prenatal Diagnosis of Two Common Inborn Errors of Metabolism by Genetic and Mass Spectrometric Analysis of Amniotic Fluid.

Shi C et al.

Frontiers in Pediatrics, 2022

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

Methylmalonic Acidemia with Novel MUT Gene Mutations.

Panigrahi I et al.

Case Reports in Genetics, 2017

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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."