Validation of New Bioinformatic Tools to Identify Expanded Repeats: a Non-Reference Intronic Pentamer Expansion Inrfc1causes CANVAS
Haloom Rafehi,David J Szmulewicz,Mark F Bennett,Nara LM Sobreira,Kate Pope,Katherine R Smith,Greta Gillies,Peter Diakumis,Egor Dolzhenko,Michael A Eberle,María García Barcina,David P Breen,Andrew M Chancellor,Phillip D Cremer,Martin B. Delatycki,Brent L Fogel,Anna Hackett,G. Michael Halmagyi,Solange Kapetanovic,Anthony Lang,Stuart Mossman,Weiyi Mu,Peter Patrikios,Susan L Perlman, Ian Rosemargy,Elsdon Storey,Shaun RD Watson,Michael A Wilson,David Zee,David Valle,David J Amor,Melanie Bahlo,Paul J Lockhart bioRxiv（2019）
关键词
Gene Expression Dysregulation
AI 理解论文
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