Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.K223R
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MMUT

NM_000255.4:p.K223R

Associated Papers

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

Jafari M et al.

Iranian Biomedical Journal, 2023

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

Şeker Yılmaz B et al.

Turkish Journal of Medical Sciences, 2021

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

Habibzadeh P et al.

Bmc Medical Genetics, 2020

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."