Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.G133delFs
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MMUT

NM_000255.4:p.G133delFs

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

Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches.

Ji X et al.

Prenatal Diagnosis, 2019

Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.

Hong S et al.

Molecular Genetics & Genomic Medicine, 2019

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

Liu MY et al.

Jimd Reports, 2012

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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."