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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy gan Yu‐Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola Thompson, Mercedes Pardo, Lu Yu, Joy Norris, Yunhui Peng, Karen W. Gripp, Kirk Aleck, Chumei Li, Ed Spence, Tae‐Ik Choi, Soo Jeong Kwon, Hee‐Moon Park, Daseuli Yu, Won Do Heo, Marie R. Mooney, Shahid Mahmood Baig, Ingrid M. Wentzensen, Aida Telegrafi, Kirsty McWalter, Trevor Moreland, Chelsea Roadhouse, Keri Ramsey, Michael J. Lyons, Cindy Skinner, Emil Alexov, Nicholas Katsanis, Roger E. Stevenson, Jyoti S. Choudhary, David J. Adams, Cheol‐Hee Kim, Erica E. Davis, Charles E. Schwartz
Cyhoeddwyd 2020Artigo