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Characterization of novel CASQ1 variants in two families with unusual phenotypic features

Title:	Characterization of novel CASQ1 variants in two families with unusual phenotypic features
Authors:	Laarne, Milla^{Aff1, Aff2, IDs00415025135123_cor1}; Jokela, Manu^{Aff3, Aff4, Aff11}; Zhao, Fang^Aff5; Huovinen, Sanna^Aff6; Kornblum, Cornelia^Aff7; Reimann, Jens^Aff7; Johari, Mridul^Aff8; Vihola, Anna^{Aff1, Aff2, Aff9}; Sarparanta, Jaakko^{Aff1, Aff2}; Udd, Bjarne^{Aff1, Aff2, Aff4}; Hackman, Peter^{Aff1, Aff2}; Lehtokari, Vilma-Lotta^{Aff1, Aff2}; Pelin, Katarina^{Aff1, Aff10}
Source:	Journal of Neurology. 272(12)
Database:	Springer Nature Journals