Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation by Hasset T. Nurelegne, Mone't B. Thompson, Kelvin C. deAndrade, Ashley S. Thompson, Lisa J. McReynolds, Marena R. Niewisch, Sharon A. Savage

Get full text

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

Get full text