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ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

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Description scientific article published on 10 April 2019
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author: Kathleen B Digre  Amin Sabri  Robyn V Jamieson  Asif Javed  Sonia Davila  Danica Novacic  Mark C Gillies  Rebecca Greenlees  John Grigg 

Publication date April 10, 2019
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