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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 1, 2023. (Total: 217488Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Retinal Degeneration and CRX[original query]
Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease.
Molecular vision 2007 13 (): 287-92.
Gao Yong-Qing, Danciger Michael, Ozgul Riza Köksal, Gribanova Yekaterina, Jacobson Samuel, Farber Debora
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Investigative ophthalmology & visual science 2014 Sep 55 (9): 5510-21.
Alapati Akhila, Goetz Kerry, Suk John, Navani Mili, Al-Tarouti Amani, Jayasundera Thiran, Tumminia Santa J, Lee Pauline, Ayyagari Rad
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.
Experimental eye research 2016 Mar .
Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Xu Yan, Xin Wei, Guo Xiangming, Zhang Qingjio
Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.
Molecular vision 2016 22 150-60.
Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Experimental eye research 2019 10 189 107846.
Yi Zhen, Xiao Xueshan, Li Shiqiang, Sun Wenmin, Zhang Qingjio
Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram.
Clinical & experimental ophthalmology 2020 3 48 (5): 644-657.
Nishiguchi Koji M, Kunikata Hiroshi, Fujita Kosuke, Hashimoto Kazuki, Koyanagi Yoshito, Akiyama Masato, Ikeda Yasuhiro, Momozawa Yukihide, Sonoda Koh-Hei, Murakami Akira, Wada Yuko, Nakazawa To
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