Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.R191Q
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MMAB

NM_052845.4:p.R191Q

Associated Papers

Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach.

Maryami F et al.

Hereditas, 2023

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

Forny P et al.

Human Genetics, 2022

Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.

Devi AR et al.

Clinical Biochemistry, 2017

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

High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.

Illson ML et al.

Molecular Genetics and Metabolism, 0

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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."