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Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3 by Chinmayee B. Nagaraj, Diana S. Brightman, Hannah Rea, Emily Wakefield, Nina V. G. Harkavy, Lisa Dyer, Wenying Zhang
Published 2024-01-01
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P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray by Ganka Douglas, Jeanne Meck, Lindsay Havens Dyer, Rhonda Brandon, Lisa Dyer, Patricia Fernandez Ferri, Mingjuan Liao, Shuxi Liu, Ludmila Matyakhina, Evica Rajcan-Separovic, Laura Sack, May Sanyoura, Wei Wang, Paul Kruszka
Published 2023-01-01
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