Varaico: Literature-Extracted Genetic Variants

Gene:MTFMT
Variant:p.K73_E74delFs
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MTFMT

NM_139242.4:p.K73_E74delFs

Associated Papers

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

Hinttala R et al.

Human Molecular Genetics, 2015

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."