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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Osteopetrosis and TNFRSF11A[original query]
Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2010 Dec 25 (12): 2592-605.
Chung Pui Yan Jenny, Beyens Greet, Riches Philip L, Van Wesenbeeck Liesbeth, de Freitas Fenna, Jennes Karen, Daroszewska Anna, Fransen Erik, Boonen Steven, Geusens Piet, Vanhoenacker Filip, Verbruggen Leon, Van Offel Jan, Goemaere Stefan, Zmierczak Hans-Georg, Westhovens René, Karperien Marcel, Papapoulos Socrates, Ralston Stuart H, Devogelaer Jean-Pierre, Van Hul W
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.
Acta pharmacologica Sinica 2017 8 38 (11): 1456-1465.
Zhang Xiao-Ya, He Jin-Wei, Fu Wen-Zhen, Wang Chun, Zhang Zhen-L
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.
Journal of human genetics 2020 10 66 (4): 371-377.
Xue Jing-Yi, Wang Zheng, Smithson Sarah F, Burren Christine P, Matsumoto Naomichi, Nishimura Gen, Ikegawa Shiro, Guo Lo
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