Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.Q708_D709Splc
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MMUT

NM_000255.4:p.Q708_D709Splc

Associated Papers

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

Jafari M et al.

Iranian Biomedical Journal, 2023

Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.

Habibzadeh P et al.

Bmc Medical Genetics, 2020

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

Keyfi F et al.

Molecular Biology Reports, 2019

Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.

Keyfi F et al.

Gene, 2016

Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees.

Ahmadloo S et al.

Cell Journal, 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."