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

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Description scientific article published on 11 December 2014
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author: Alison Compton  Jozef Gécz  Joris A Veltman  Lachlan A Jolly  Damien J Keating  Michael Harbord  Peer Arts  Michael Kwint  Nienke Wieskamp 

Publication date December 11, 2014
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