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A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

Joe Rainger1, Kathleen A Williamson2, Dinesh C Soares2

  • 1The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush Campus, Midlothian, UK.

Human Mutation
|May 12, 2017
PubMed

Keywords:
ACTG1eye developmentocular colobomatissue fusion

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