Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency
Sanna Puusepp(Tartu University Hospital), Katrin Õunap(Tartu University Hospital), Matthias C. Braunisch(Technical University of Munich), Tobias B. Haack(Technical University of Munich), Annika Vaarmann(University of Tartu), Merle Mandel(University of Tartu), Mailis Liiv(University of Tartu), Bader Alhaddad(Helmholtz Zentrum München), Urania Kotzaeridou(Heidelberg University), Dzhamilja Safiulina(University of Tartu), Richard J. Rodenburg(Radboud University Nijmegen), Callum Wilson(Auckland City Hospital), Inga Talvik(East Tallinn Central Hospital), Réka Kovács-Nagy(Semmelweis University), Allen Kaasik(University of Tartu), Georg F. Hoffmann(Heidelberg University), Christine Makowski(Technical University of Munich), Tim M. Strom(Ludwig-Maximilians-Universität München), Sander Pajusalu(MACOM (United States)), Lucia Lichvárová(University of Fribourg), Thomas Meitinger(Helmholtz Zentrum München)
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