Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.R326G
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MMAA

NM_172250.3:p.R326G

Associated Papers

Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.

Keyfi F et al.

Molecular Biology Reports, 2019

Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.

Shafaat M et al.

Metabolic Brain Disease, 2018

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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."