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Genet.\n\t\t\t\t\t1995;\n\t\t\t\t\t4:\n\t\t\t\t\t485\u2013488.","DOI":"10.1093\/hmg\/4.3.485"},{"key":"i1552-5783-59-15-5824-b17","doi-asserted-by":"crossref","unstructured":"Bisceglia\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tCiaschetti\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tDe Bonis\n\t\t\t\t\t\t\tP,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tVSX1 Mutational analysis in a series of italian patients affected by keratoconus: detection of a novel mutation.\n\t\t\t\t\tInvest Opthalmol Vis Sci.\n\t\t\t\t\t2005;\n\t\t\t\t\t46:\n\t\t\t\t\t39\u201345.","DOI":"10.1167\/iovs.04-0533"},{"key":"i1552-5783-59-15-5824-b18","unstructured":"De Bonis\n\t\t\t\t\t\t\tP,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLaborante\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPizzicoli\n\t\t\t\t\t\t\tC,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tMutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in 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of human corneal nerves.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t1996;\n\t\t\t\t\t37:\n\t\t\t\t\t476\u2013488."},{"key":"i1552-5783-59-15-5824-b59","doi-asserted-by":"crossref","unstructured":"Whiffin\n\t\t\t\t\t\t\tN,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMinikel\n\t\t\t\t\t\t\tE,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tWalsh\n\t\t\t\t\t\t\tR,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tUsing high-resolution variant frequencies to empower clinical genome interpretation.\n\t\t\t\t\tGenet Med.\n\t\t\t\t\t2017;\n\t\t\t\t\t19:\n\t\t\t\t\t1151\u20131158.","DOI":"10.1038\/gim.2017.26"},{"key":"i1552-5783-59-15-5824-b60","doi-asserted-by":"crossref","unstructured":"Liskova\n\t\t\t\t\t\t\tP,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGwilliam\n\t\t\t\t\t\t\tR,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFilipec\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tHigh prevalence of posterior polymorphous corneal dystrophy in the Czech 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Janecke.\n\t\t\t\t\tPLoS One.\n\t\t\t\t\t2012;\n\t\t\t\t\t7:\n\t\t\t\t\te45495.","DOI":"10.1371\/journal.pone.0045495"},{"key":"i1552-5783-59-15-5824-b61","doi-asserted-by":"crossref","unstructured":"H\u00e9on\n\t\t\t\t\t\t\tE,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGreenberg\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tKopp\n\t\t\t\t\t\t\tKK,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tVSX1: a gene for posterior polymorphous dystrophy and keratoconus.\n\t\t\t\t\tHum Mol Genet.\n\t\t\t\t\t2002;\n\t\t\t\t\t11:\n\t\t\t\t\t1029\u20131036.","DOI":"10.1093\/hmg\/11.9.1029"},{"key":"i1552-5783-59-15-5824-b62","doi-asserted-by":"crossref","unstructured":"Eran\n\t\t\t\t\t\t\tP,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAlmogit\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tDavid\n\t\t\t\t\t\t\tZ,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tThe D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation?\n\t\t\t\t\tOphthalmic Genet.\n\t\t\t\t\t2008;\n\t\t\t\t\t29:\n\t\t\t\t\t53\u201359.","DOI":"10.1080\/13816810802008242"},{"key":"i1552-5783-59-15-5824-b63","unstructured":"Paliwal\n\t\t\t\t\t\t\tP,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSingh\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tTandon\n\t\t\t\t\t\t\tR,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tTitiyal\n\t\t\t\t\t\t\tJS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSharma\n\t\t\t\t\t\t\tA.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tA novel VSX1 mutation identified in an individual with keratoconus in India.\n\t\t\t\t\tMol Vis.\n\t\t\t\t\t2009;\n\t\t\t\t\t15:\n\t\t\t\t\t2475\u20132479."}],"container-title":["Investigative Opthalmology &amp; Visual Science"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/iovs.arvojournals.org\/article.aspx?articleid=2718344","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:31:00Z","timestamp":1791927060000},"score":1,"resource":{"primary":{"URL":"http:\/\/iovs.arvojournals.org\/article.aspx?doi=10.1167\/iovs.18-25490"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,11]]},"references-count":63,"journal-issue":{"issue":"15","published-print":{"date-parts":[[2018,12,3]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.18-25490","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2018,12,11]]}}}