Published in
Springer Nature [academic journals on nature.com], European Journal of Human Genetics, 3(26), p. 407-419, 2018
DOI: 10.1038/s41431-017-0001-6
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Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency
Journal article published in 2018 by
Sanna Puusepp,
Reka Kovacs-Nagy,
Bader Alhaddad 
,
Matthias Braunisch,
Georg F. Hoffmann,
Urania Kotzaeridou,
Lucia Lichvarova,
Mailis Liiv,
Christine Makowski,
Merle Mandel,
Thomas Meitinger,
Sander Pajusalu ,
Richard J. Rodenburg ,
Dzhamilja Safiulina,
Tim M. Strom
and other authors.
,
Matthias Braunisch,
Georg F. Hoffmann,
Urania Kotzaeridou,
Lucia Lichvarova,
Mailis Liiv,
Christine Makowski,
Merle Mandel,
Thomas Meitinger,
Sander Pajusalu ,
Richard J. Rodenburg ,
Dzhamilja Safiulina,
Tim M. Strom
and other authors.
This paper is made freely available by the publisher.
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