Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

Raman Kumar, Mark Corbett, Nicholas Smith, Lachlan Jolly, Chuan Tan, Damien Keating, Michael Duffield, Toshihiko Utsumi, Koko Moriya, Katherine Smith, Alexander Hoischen, Kym Abbott, Michael Harbord, Alison Compton, Joshua Woenig, Peer Arts, Michael Kwint, Nienke Wieskamp, Sabine Gijsen, Joris VeltmanMelanie Bahlo, Joseph Gleeson, Eric Haan, Jozef Gecz

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