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Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).
Human Molecular Genetics
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2024
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Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.
PLOS ONE
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2024
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Miller, DK, Menezes, MJ, Simons, C, Riley, LG, Cooper, ST, Grimmond, SM, Thorburn, DR, Christodoulou, J, Taft, RJ.
Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient.
PLOS ONE
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Fröhlich, D, Suchowerska, AK, Voss, C, He, R, Wolvetang, E, von Jonquieres, G, Simons, C, Fath, T, Housley, GD, Klugmann, M.
Expression Pattern of the Aspartyl-tRNA Synthetase DARS in the Human Brain.
Frontiers in Molecular Neuroscience
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Thiffault, I, Wolf, NI, Forget, D, Guerrero, K, Tran, LT, Choquet, K, Lavallée-Adam, M, Poitras, C, Brais, B, Yoon, G, et al.
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Nature Communications
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