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A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Rainger J, Williamson KA, Soares DC, Truch J, Kurian D, Gillessen-Kaesbach G, Seawright A, Prendergast J, Halachev M, Wheeler A, McTeir L, Gill AC, van Heyningen V, Davey MG; UK10K; FitzPatrick DR. Rainger J, et al. Among authors: truch j. Hum Mutat. 2017 Aug;38(8):942-946. doi: 10.1002/humu.23246. Epub 2017 Jun 6. Hum Mutat. 2017. PMID: 28493397 Free PMC article.