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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 - 2 (of 2 Records)

Query Trace: Coloboma and LRP6[original query]
Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
Molecular vision 2009 15 .
Zhang Xiaohui, Li Shiqiang, Xiao Xueshan, Jia Xiaoyun, Wang Panfeng, Shen Huangxuan, Guo Xiangming, Zhang Qingjio
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.
Clinical genetics 2020 8 98 (5): 499-506.
Islam Farrah, Htun Stephanie, Lai Li-Wen, Krall Max, Poranki Menitha, Martin Pierre-Marie, Sobreira Nara, Wohler Elizabeth S, Yu Jingwei, Moore Anthony T, Slavotinek Anne
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