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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Title
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
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 21, Issue 11, Pages 2412-2419
Publisher
Oxford University Press (OUP)
Online
2012-02-18
DOI
10.1093/hmg/dds055
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