Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta

D. A. Petukhova, E. E. Gurinova, A. L. Sukhomyasova, N. R. Maksimova. Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta. In Zhipeng Cai 0001, Ion I. Mandoiu, Giri Narasimhan, Pavel Skums, Xuan Guo, editors, Bioinformatics Research and Applications - 16th International Symposium, ISBRA 2020, Moscow, Russia, December 1-4, 2020, Proceedings. Volume 12304 of Lecture Notes in Computer Science, pages 38-43, Springer, 2020. [doi]

Abstract

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