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

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Description scientific article published on 08 September 2020
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author: Peter Bauer  Henry Houlden  Guy Helman  Joseph G Gleeson  Raghda Zaitoun  Laila A Selim  Valentina Stanley  Anna C E Hurst  Christian Beetz  Hoda Tomoum  Maha Zaki  Mahmoud Y Issa  Alistair T Pagnamenta 

Publication date September 8, 2020
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