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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
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- Human Genetics, 2014, v. 133, n. 3, p. 331, doi. 10.1007/s00439-013-1381-5
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Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
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- Journal of Clinical Investigation, 2012, v. 122, n. 11, p. 4257, doi. 10.1172/JCI64313
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- Article