Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.K75*
Back to variants list

MMUT

NM_000255.4:p.K75*

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."