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  1. 1
    Academic Journal

    Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies

    Authors: Rodríguez-Muñoz, Ana, Aller, Elena, Jaijo, Teresa, González-García, Emilio, Cabrera-Peset, Ana, Gallego-Pinazo, Roberto, Udaondo, Patricia, Salom, David, García-García, Gema, Millán, José M.

    Source: In The Journal of Molecular Diagnostics April 2020 22(4):532-543

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  2. 2
    Academic Journal

    Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.

    Authors: Rodriguez-Muñoz, Ana1,2 (AUTHOR), Liquori, Alessandro3,4 (AUTHOR), García-Bohorquez, Belén1,2,5 (AUTHOR), Jaijo, Teresa1,2,5,6 (AUTHOR), Aller, Elena1,2,5,6 (AUTHOR), Millán, José M.1,2,5 (AUTHOR) millan_jos@gva.es, García-García, Gema1,2,5 (AUTHOR)

    Source: Scientific Reports. 1/7/2022, Vol. 12 Issue 1, p1-8. 8p.

    Subject Terms: *RETINAL degeneration, *GENETIC engineering, *MOLECULAR diagnosis, *VISION, *DIAGNOSIS, *PHOTORECEPTORS

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