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

Puusepp S, Kovacs-Nagy R, Alhaddad B, Braunisch M, Hoffmann GF, Kotzaeridou U, Lichvarova L, Liiv M, Makowski C, Mandel M, Meitinger T, Pajusalu S, Rodenburg RJ, Safiulina D, Strom TM, Talvik I, Vaarmann A, Wilson C, Kaasik A, Haack TB, Ounap K
Eur J Hum Genet. 2018 Mar;26(3):407-419. doi: 10.1038/s41431-017-0001-6. Epub 2018 Jan 17. PubMed Article

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