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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Title:	A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
Authors:	Ghosh, Shereen G.^{Aff1, Aff2}; Scala, Marcello^{Aff3, Aff4}; Beetz, Christian^Aff5; Helman, Guy^{Aff6, Aff7}; Stanley, Valentina^{Aff1, Aff2}; Yang, Xiaoxu^{Aff1, Aff2}; Breuss, Martin W.^{Aff1, Aff2}; Mazaheri, Neda^Aff8; Selim, Laila^Aff9; Hadipour, Fatemeh^Aff10; Pais, Lynn^Aff11; Stutterd, Chloe A.^{Aff6, Aff7, Aff12}; Karageorgou, Vasiliki^Aff5; Begtrup, Amber^Aff13; Crunk, Amy^Aff13; Juusola, Jane^Aff13; Willaert, Rebecca^Aff13; Flore, Leigh A.^Aff14; Kennelly, Kelly^Aff14; Spencer, Christopher^Aff15; Brown, Martha^Aff15; Trapane, Pamela^Aff15; Hurst, Anna C. E.^Aff16; Lane Rutledge, S.^Aff16; Goodloe, Dana H.^Aff16; McDonald, Marie T.^Aff17; Shashi, Vandana^Aff17; Schoch, Kelly^Aff17; Tomoum, Hoda^Aff18; Zaitoun, Raghda^Aff18; Hadipour, Zahra^Aff10; Galehdari, Hamid^Aff8; Pagnamenta, Alistair T.^Aff19; Mojarrad, Majid^{Aff20, Aff21, Aff22}; Sedaghat, Alireza^Aff23; Dias, Patrícia^Aff24; Quintas, Sofia^Aff25; Eslahi, Atiyeh^{Aff20, Aff26}; Shariati, Gholamreza^Aff27; Bauer, Peter^Aff5; Simons, Cas^{Aff6, Aff7}; Houlden, Henry^Aff4; Issa, Mahmoud Y.^Aff28; Zaki, Maha S.^Aff28; Maroofian, Reza^{Aff4, IDs41431020007175_cor46}; Gleeson, Joseph G.^{Aff1, Aff2, IDs41431020007175_cor47}
Source:	European Journal of Human Genetics. 29(2):271-279
Database:	Springer Nature Journals