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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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Query Trace: Retinitis Pigmentosa and NMNAT1[original query]
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
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