Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.N225delFs
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MMAA

NM_172250.3:p.N225delFs

Associated Papers

Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.

Jafari M et al.

Iranian Biomedical Journal, 2023

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

Keyfi F et al.

Molecular Biology Reports, 2019

Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia.

Keyfi F et al.

Cellular & Molecular Biology Letters, 2016

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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."