Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: Retinitis Pigmentosa[original query] |
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A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.
Communications biology 2021 Jan 4 (1): 140. Nishiguchi Koji M, Miya Fuyuki, Mori Yuka, Fujita Kosuke, Akiyama Masato, Kamatani Takashi, Koyanagi Yoshito, Sato Kota, Takigawa Toru, Ueno Shinji, Tsugita Misato, Kunikata Hiroshi, Cisarova Katarina, Nishino Jo, Murakami Akira, Abe Toshiaki, Momozawa Yukihide, Terasaki Hiroko, Wada Yuko, Sonoda Koh-Hei, Rivolta Carlo, Tsunoda Tatsuhiko, Tsujikawa Motokazu, Ikeda Yasuhiro, Nakazawa To |
Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.
PLoS genetics 2023 2 19 (2): e1010587. Currant Hannah, Fitzgerald Tomas W, Patel Praveen J, Khawaja Anthony P, , Webster Andrew R, Mahroo Omar A, Birney Ew |
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- Page last updated:May 06, 2024
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