Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.P152S
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MMAA

NM_172250.3:p.P152S

Associated Papers

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.

Hörster F et al.

Journal of Inherited Metabolic Disease, 2021

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

Sawangareetrakul P et al.

Biochemical Genetics, 2015

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."