Varaico: Literature-Extracted Genetic Variants

Gene:MTFMT
Variant:p.P151L
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MTFMT

NM_139242.4:p.P151L

Associated Papers

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.

Hayhurst H et al.

Annals of Clinical and Translational Neurology, 2019

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW et al.

Jama, 2014

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

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.

Neeve VC et al.

Mitochondrion, 2013

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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."