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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
*Corresponding author af dette arbejde