Varaico: Literature-Extracted Genetic Variants

Gene:MTFMT
Variant:p.Q25*
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MTFMT

NM_139242.4:p.Q25*

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

Legati A et al.

Biochimica Et Biophysica Acta, 2016

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

Haack TB et al.

Molecular Genetics and Metabolism, 2014

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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."