European Journal of Human Genetics · 2013 · 27 citations · 19 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsOcular GeneticsCongenital Eye AnomaliesEnzyme DeficienciesGenetic DisordersInborn Errors Of MetabolismMendelian DisordersMutation ScreeningInherited Ocular DiseaseInherited Ocular DisordersMissense MutationsMutation
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Valérie Dupé, Nicolas Matt, Jean‐Marie Garnier et al. · Proceedings of the National Academy of Sciences · 2003 · 309 citations · Full text