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Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: From syndromic to nonsyndromic retinal degeneration
Koji M. Nishiguchi, Almudena Avila-Fernandez, Ramon A.C. Van Huet, Marta Corton, Raquel Pérez-Carro, Esther Martín-Garrido, María Isabel López-Molina, Fiona Blanco-Kelly, Lies H. Hoefsloot, Wendy A. Van Zelst-Stams, Pedro J. García-Ruiz, Javier Del Val, Silvio Alessandro Di Gioia, B. Jeroen Klevering, Bart P.C. Van De Warrenburg, Carlos Vazquez, Frans P.M. Cremers, Blanca García-Sandoval, Carel B. Hoyng, Rob W.J. Collin
Research output: Contribution to journal › Article › peer-review
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(Scopus)