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Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Epub 2013 Sep 17.
Hum Mutat. 2013.
PMID: 23946133
Free PMC article.
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