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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

David Pellerin, Giulia Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung, Isaac Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos‐Rodrigues, Igor Stevanovski, Carolin K. Scriba, Adriana Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril Peter, Dan Hasson, Nadejda M. Tsankova, Ken Dewar, Phillipa J. Lamont, Nigel G. Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, André Nussenzweig, Марек Напиерала, Zhao Chen, Hong Jiang, Ira W. Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A. Eberle, Kym M. Boycott, Tomi Pastinen, Emily Bateman, Chelsea Berngruber, Fabio Cunial, Colleen Davis, Huyen Dinh, HarshaVardhan Doddapaneni, Kim K. Doheny, Shannon Dugan‐Perez, Tara Dutka, Evan E. Eichler, Philip E. Empey, Sarah Fazal, Chris Frazar, Kiran Garimella, Jessica Gearhart, Richard C. Gibbs, Jane Grimwood, Namrata Gupta, Salina K. Hall, Yi Han, William T. Harvey, Jess Hosea, PingHsun Hsieh, Jianhong Hu, Yongqing Huang, James C. M. Hwang, Michal Izydorczyk, Hyeonsoo Jeong, Ziad Khan, Sarah Kirkpatrick, Michelle Kokosinski, Sam Kovaka, Edibe Nehir Kurtas, Rebecca Lakatos, Emily L. LaPlante, Samuel K. Lee, Niall J. Lennon, Shawn Levy, Qiuhui Li, Lee Lichtenstein, Glennis A. Logsdon, Chris Lord, Ryan Lorig-Roach, Medhat Madmoud, Anant Maheshwari, Beth Marosy, Heer H. Mehta, Ginger Metcalf, David W. Mohr, Carolina Montaño, Luke B Morina, Yulia Mostovoy, Anjene Musick, Donna M. Muzny, Shane Neph, Justin Paschall, Karynne Patterson, A. Pionzio, David Porubskỳ, Nripesh Prasad, Allison N. Rozanski, Alba Sanchis-Juan

2024Nature Genetics34 citationsDOIOpen Access PDF

Topics & Concepts

BiologyLocus (genetics)GeneticsComputational biologyGeneFibroblast Growth Factor ResearchConnective tissue disorders researchGenetic Syndromes and Imprinting
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus | Litcius