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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 6, 2023. (Total: 223792Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Retinal Dystrophies and SPATA7[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
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
Molecular vision 2017 10 23 649-659.
Han Jinu, Rim John Hoon, Hwang In Sik, Kim Jieun, Shin Saeam, Lee Seung-Tae, Choi Jong R
Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.
Molecular vision 2020 1 25 821-833.
Xiao Xueshan, Sun Wenmin, Li Shiqiang, Jia Xiaoyun, Zhang Qingjio
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