Genética y epidemiología de la aniridia congénita: actualización de buenas prácticas para el diagnóstico genético
Author:
Funder
Comunidad de Madrid
Instituto de Salud Carlos III
Publisher
Elsevier BV
Subject
Ophthalmology
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3. Implication of non-coding PAX6 mutations in aniridia;Plaisancié;Hum Genet,2018
4. Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia;Tarilonte;Front Genet.,2018
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2. ABE8e Corrects Pax6-Aniridic Variant in Humanized Mouse ESCs and via LNPs in Ex Vivo Cortical Neurons;Ophthalmology and Therapy;2023-05-20
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