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1 Ergebnisse
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Exome copy number variant detection, analysis, and classifi..:
Lemire, Gabrielle
;
Sanchis-Juan, Alba
;
Russell, Kathryn
...
The American Journal of Human Genetics. 111 (2024) 5 - p. 863-876 , 2024
Link:
https://doi.org/10.1016/j.ajhg.2024.03.008
RT Journal T1
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2024.03.008&Exemplar=1&LAN=DE A1 Lemire, Gabrielle A1 Sanchis-Juan, Alba A1 Russell, Kathryn A1 Baxter, Samantha A1 Chao, Katherine R. A1 Singer-Berk, Moriel A1 Groopman, Emily A1 Wong, Isaac A1 England, Eleina A1 Goodrich, Julia A1 Pais, Lynn A1 Austin-Tse, Christina A1 DiTroia, Stephanie A1 O'Heir, Emily A1 Ganesh, Vijay S. A1 Wojcik, Monica H. A1 Evangelista, Emily A1 Snow, Hana A1 Osei-Owusu, Ikeoluwa A1 Fu, Jack A1 Singh, Mugdha A1 Mostovoy, Yulia A1 Huang, Steve A1 Garimella, Kiran A1 Kirkham, Samantha L. A1 Neil, Jennifer E. A1 Shao, Diane D. A1 Walsh, Christopher A. A1 Argilli, Emanuela A1 Le, Carolyn PB Elsevier BV YR 2024 SN 0002-9297 JF The American Journal of Human Genetics VO 111 IS 5 SP 863 OP 876 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2024.03.008 DO https://doi.org/10.1016/j.ajhg.2024.03.008 SF ELIB - SuUB Bremen
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