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Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

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Description scientific article
Author/s

author: Karen Gripp  Kim M Keppler-Noreuil  Maria T. Fiorenza  Emilia Stellacci  Massimiliano Anselmi  Gabriele Gillessen-Kaesbach  Sabrina Prudente  Philippe M. Campeau  Marcello Niceta  Viviana Caputo  Alice Traversa  Alessandro Bruselles  Nicole Philip  Marco Tartaglia  Nicholas Katsanis  Serena Cecchetti  Andrea Ciolfi  Gianfranco Bocchinfuso 

Publication date April 9, 2015
Language English
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