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收藏分享 收藏 分享 收藏 Clinical Exome Studies Have Inconsistent Coverage
Gotway, Garrett; Crossley, Eric; Kozlitina, Julia; Xing, Chao; Fan, Judy; Hornbuckle, Callie; Thies, Jenny; Michel, Donnice; Quinn, Christine; Scheuerle, Angela E.; Umana, Luis A.; Uhles, Crescenda; Park, Jason Y. 分享 收藏 Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and HumansNi, Min; Solmonson, Ashley; Pan, Chunxiao; Yang, Chendong; Li, Dan; Notzon, Ashley; Cai, Ling; Guevara, Gerardo; Zacharias, Lauren G.; Faubert, Brandon; Vu, Hieu S.; Jiang, Lei; Ko, Bookyung; Morales, Noriko Merida; Pei, Jimin; Vale, Goncalo; Rakheja, Dinesh; Grishin, Nick V.; McDonald, Jeffrey G.; Gotway, Garrett K.; McNutt, Markey C.; Pascual, Juan M.; DeBerardinis, Ralph J. 分享 收藏 分享 收藏 De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsWeiss, Karin; Terhal, Paulien A.; Cohen, Lior; Bruccoleri, Michael; Irving, Melita; Martinez, Ariel F.; Rosenfeld, Jill A.; Machol, Keren; Yang, Yaping; Liu, Pengfei; Walkiewicz, Magdalena; Beuten, Joke; Gomez-Ospina, Natalia; Haude, Katrina; Fong, Chin-To; Enns, Gregory M.; Bernstein, Jonathan A.; Fan, Judith; Gotway, Garrett; Ghorbani, Mohammad; van Gassen, Koen; Monroe, Glen R.; van Haaften, Gijs; Basel-Vanagaite, Lina; Yang, Xiang-Jiao; Campeau, Philippe M.; Muenke, Maximilian 分享 收藏 分享 收藏 Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesMudd病 (MAT I/III缺乏症): MAT1A纯合子和复合杂合子的数据调查Chien, Yin-Hsiu; Abdenur, Jose E.; Baronio, Federico; Bannick, Allison Anne; Corrales, Fernando; Couce, Maria; Donner, Markus G.; Ficicioglu, Can; Freehauf, Cynthia; Frithiof, Deborah; Gotway, Garrett; Hirabayashi, Koichi; Hofstede, Floris; Hoganson, George; Hwu, Wuh-Liang; James, Philip; Kim, Sook; Korman, Stanley H.; Lachmann, Robin; Levy, Harvey; Lindner, Martin; Lykopoulou, Lilia; Mayatepek, Ertan; Muntau, Ania; Okano, Yoshiyuki; Raymond, Kimiyo; Rubio-Gozalbo, Estela; Scholl-Buergi, Sabine; Schulze, Andreas; Singh, Rani; Stabler, Sally; Stuy, Mary; Thomas, Janet; Wagner, Conrad; Wilson, William G.; Wortmann, Saskia; Yamamoto, Shigenori; Pao, Maryland; Blom, Henk J. 分享 收藏 分享 收藏 Chromosomal localization of a human mucin gene (MUC8) and cloning of the cDNA corresponding to the carboxy terminusShankar, V; Pichan, P; Eddy, RL; Tonk, V; Nowak, N; Sait, SNJ; Shows, TB; Schultz, RE; Gotway, G; Elkins, RC; Gilmore, MS; Sachdev, GP 分享 收藏 
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