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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 20, 2025. (Total: 235500Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Retinal Dystrophies and PROM1[original query]
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
PloS one 2014 9 (8): e104281.
Watson Christopher M, El-Asrag Mohammed, Parry David A, Morgan Joanne E, Logan Clare V, Carr Ian M, Sheridan Eamonn, Charlton Ruth, Johnson Colin A, Taylor Graham, Toomes Carmel, McKibbin Martin, Inglehearn Chris F, Ali Man
Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.
Eye (London, England) 2021 4 36 (4): 749-759.
Ng Tsz Kin, Cao Yingjie, Yuan Xiang-Ling, Chen Shaowan, Xu Yanxuan, Chen Shao-Lang, Zheng Yuqian, Chen Hao
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