TY  - GEN
AU  - Rafehi,Haloom
AU  - Szmulewicz,David J
AU  - Bennett,Mark F
AU  - Sobreira,Nara L M
AU  - Pope,Kate
AU  - Smith,Katherine R
AU  - Gillies,Greta
AU  - Diakumis,Peter
AU  - Dolzhenko,Egor
AU  - Eberle,Michael A
AU  - Barcina,María García
AU  - Breen,David P
AU  - Chancellor,Andrew M
AU  - Cremer,Phillip D
AU  - Delatycki,Martin B
AU  - Fogel,Brent L
AU  - Hackett,Anna
AU  - Halmagyi,G Michael
AU  - Kapetanovic,Solange
AU  - Lang,Anthony
AU  - Mossman,Stuart
AU  - Mu,Weiyi
AU  - Patrikios,Peter
AU  - Perlman,Susan L
AU  - Rosemergy,Ian
AU  - Storey,Elsdon
AU  - Watson,Shaun R D
AU  - Wilson,Michael A
AU  - Zee,David S
AU  - Valle,David
AU  - Amor,David J
AU  - Bahlo,Melanie
AU  - Lockhart,Paul J
TI  - Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
SN  - 1537-6605
PY  - 2020///0311
KW  - Algorithms
KW  - Cerebellar Ataxia
KW  - etiology
KW  - Cohort Studies
KW  - Computational Biology
KW  - methods
KW  - Family
KW  - Female
KW  - Genomics
KW  - Humans
KW  - Introns
KW  - Male
KW  - Microsatellite Repeats
KW  - Middle Aged
KW  - Polyneuropathies
KW  - Replication Protein C
KW  - genetics
KW  - Sensation Disorders
KW  - Syndrome
KW  - Vestibular Diseases
KW  - Whole Genome Sequencing
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2019.05.016
ER  -