Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Atrophy and NMNAT1[original query] |
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Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. Molecular vision 2014 20 753-9. Siemiatkowska Anna M, van den Born L Ingeborgh, van Genderen Maria M, Bertelsen Mette, Zobor Ditta, Rohrschneider Klaus, van Huet Ramon A C, Nurohmah Siska, Klevering B Jeroen, Kohl Susanne, Faradz Sultana M H, Rosenberg Thomas, den Hollander Anneke I, Collin Rob W J, Cremers Frans P |
Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration. Eye (London, England) 2021 11 36 (12): 2279-2285. Yi Zhen, Li Shiqiang, Wang Siyu, Xiao Xueshan, Sun Wenmin, Zhang Qingjio |
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