A novel TERT variant associated with a telomere biology disorder and challenges in variant classification by Vahid Pazhakh, Lucy C. Fox, Nicole Den Elzen, Matthew R. Emerson, Scott B. Cohen, Tracy M. Bryan, Kevin Norris, Duncan M. Baird, Tara Cochrane, John Mackintosh, Ashleigh Scott, Piers Blombery

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TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders by Kelvin César de Andrade, Emilia M. Pinto, Tianna Zhao, Logan P. Zeigler, Jung Kim, Neelam Giri, Jeremy S. Haley, Lisa J. McReynolds, Oscar Florez-Vargas, Aaron H. Phillips, Richard W. Kriwacki, Sherifa A. Akinniyi, Scott B. Cohen, Matthew R. Emerson, Diane T. Smelser, Gretchen M. Urban, Cintia Fridman, Gerard P. Zambetti, Tracy M. Bryan, David J. Carey, Christine Kim Garcia, Douglas R. Stewart, Sharon A. Savage

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