Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Retinitis Pigmentosa and MERTK[original query] |
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Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa. Genetic testing and molecular biomarkers 2018 2 22 (3): 165-169. Yang Mu, Li Shujin, Liu Wenjing, Yang Yeming, Zhang Lin, Zhang Shanshan, Jiang Zhilin, Yang Zhenglin, Zhu Xianj |
Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa. Molecular vision 2018 11 24 667-678. Jonsson Frida, Burstedt Marie, Kellgren Therese G, Golovleva Iri |
Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases. PloS one 2020 9 15 (9): e0239748. Rashid Muhammad, Qasim Muhammad, Ishaq Rafaqat, Bukhari Shazia Anwer, Sajid Zureesha, Ashfaq Usman Ali, Haque Asma, Ahmed Zubair |
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- Page last updated:Apr 22, 2024
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