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publicationName American journal of human genetics
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bibliographicCitation Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR. Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. Am J Hum Genet. 1997 Apr;60(4):869–78. PMID: 9106533; PMCID: PMC1712484.
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title Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations
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