Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

Helena Gásdal Karstensen, Nanna Dahl Rendtorff, Lone Sandbjerg Hindbæk, Roberto Colombo, Amelie Stein, Niels Holtum Birkebæk, Rasmus Hartmann-Petersen, Kresten Lindorff-Larsen, Allan Thomas Højland, Michael Bjørn Petersen, Lisbeth Tranebjærg

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Biochemistry, Genetics and Molecular Biology