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Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

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Description scientific article
Author/s

author: Joke Reumers  Sarah Herdewyn  Philip Van Damme  Gert Matthijs  Valérie Race  Diether Lambrechts  Matthieu Moisse  Leonard H van den Berg  An Goris  Helenius J Schelhaas  Wim Robberecht 

Publication date June 1, 2012
Language English
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