Bioinformatics-based identification of expanded repeats:a non-reference intronic pentamer expansion in RFC1 causes CANVAS
- Creator: Rafehi, Haloom , Szmulewicz, David J. , Barcina, Maria Garcia , Breen, David P. , Chancellor, Andrew M. , Cremer, Phillip D. , Delatycki, Martin B. , Fogel, Brent L. , Hackett, Anna , Halmagyi, G. Michael , Kapetanovic, Solange , Lang, Anthony , Bennett, Mark F. , Mossman, Stuart , Mu, Weiyi , Patrikios, Peter , Perlman, Susan L. , Rosemergy, Ian , Storey, Elsdon , Watson, Shaun R. D. , Wilson, Michael A. , Zee, David S. , Valle, David , Sobreira, Nara L. M. , Amor, David J. , Bahlo, Melanie , Lockhart, Paul J. , Pope, Kate , Smith, Katherine R. , Gillies, Greta , Diakumis, Peter , Dolzhenko, Egor , Eberle, Michael A.
- Resource Type: journal article
- Date: 2019
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans
- Creator: Mandrile, Giorgia , Di Gregorio, Eleonora , Goel, Himanshu , Giachino, Daniela , De Mercanti, Stefania , Iudicello, Marco , Rolando, Marco , Losa, Sabrina , De Marchi, Mario , Brusco, Alfredo
- Resource Type: journal article
- Date: 2016