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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Oct 5, 2024. (Total: 232220Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Craniofacial Microsomia[original query]
Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. GWAS Catalog
Nature communications 2016 7 10605.
Zhang Yong-Biao, Hu Jintian, Zhang Jiao, Zhou Xu, Li Xin, Gu Chaohao, Liu Tun, Xie Yangchun, Liu Jiqiang, Gu Mingliang, Wang Panpan, Wu Tingting, Qian Jin, Wang Yue, Dong Xiaoqun, Yu Jun, Zhang Qingg
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Nature communications 2021 8 12 (1): 4680.
Timberlake Andrew T, Griffin Casey, Heike Carrie L, Hing Anne V, Cunningham Michael L, Chitayat David, Davis Mark R, Doust Soghra J, Drake Amelia F, Duenas-Roque Milagros M, Goldblatt Jack, Gustafson Jonas A, Hurtado-Villa Paula, Johns Alexis, Karp Natalya, Laing Nigel G, Magee Leanne, , Mullegama Sureni V, Pachajoa Harry, Porras-Hurtado Gloria L, Schnur Rhonda E, Slee Jennie, Singer Steven L, Staffenberg David A, Timms Andrew E, Wise Cheryl A, Zarante Ignacio, Saint-Jeannet Jean-Pierre, Luquetti Daniela
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