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Title:

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

Document type:
Zeitschriftenaufsatz
Author(s):
Puusepp, Sanna; Kovacs-Nagy, Reka; Alhaddad, Bader; Braunisch, Matthias; Hoffmann, Georg F.; Kotzaeridou, Urania; Lichvarova, Lucia; Liiv, Mailis; Makowski, Christine; Mandel, Merle; Meitinger, Thomas; Pajusalu, Sander; Rodenburg, Richard J.; Safiulina, Dzhamilja; Strom, Tim M.; Talvik, Inga; Vaarmann, Annika; Wilson, Callum; Kaasik, Allen; Haack, Tobias B.; Õunap, Katrin
Journal title:
European Journal of Human Genetics
Year:
2018
Journal volume:
26
Journal issue:
3
Pages contribution:
407-419
Fulltext / DOI:
doi:10.1038/s41431-017-0001-6
Publisher:
Springer Science and Business Media LLC
E-ISSN:
1018-48131476-5438
Date of publication:
17.01.2018
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