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Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia

Deml, B. ; Reis, L.M. ; Maheshwari, M. ; Griffis, C. ; Bick, D. ; Semina, E.V.

Clinical genetics, 2014-11, Vol.86 (5), p.475-481 [Peer Reviewed Journal]

Oxford, UK: Blackwell Publishing Ltd

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