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https://www.cegat.de/web/wp-content/uploads/2018/12/Publikations-Keyvisual-V3.jpg10801920Alexander Borsthttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngAlexander Borst2019-10-08 11:16:262019-10-08 11:16:26Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.
https://www.cegat.de/web/wp-content/uploads/2019/07/admin-ajax2.jpg225400Alexander Borsthttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngAlexander Borst2019-09-17 14:08:292019-09-17 14:09:32Biallelic Parkin (PARK2) mutations can cause a bvFTD phenotype without clinically relevant parkinsonism.
https://www.cegat.de/web/wp-content/uploads/2019/07/admin-ajax2.jpg225400Alexander Borsthttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngAlexander Borst2019-08-13 09:36:082019-08-13 09:36:08PEDIA: prioritization of exome data by image analysis.
