Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.V188_E193ins2
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MMAB

NM_052845.4:p.V188_E193ins2

Associated Papers

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.

Forny P et al.

Human Genetics, 2022

Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.

Sawangareetrakul P et al.

Biochemical Genetics, 2015

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.

Vatanavicharn N et al.

Molecular Genetics and Metabolism, 2012

Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.

Lerner-Ellis JP et al.

Molecular Genetics and Metabolism, 2006

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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."