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Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration

Sangermano, Riccardo, Pooja Biswas, Lori Sullivan, Emily Place, Shyamanga Borooah, Juerg Straubhaar, Eric Pierce, Stephen Daiger, Kinga Bujakowska, and Radha Ayaggari. 2022. “Identification of a Novel Large Multigene Deletion and a Frameshift Indel in PDE6B As the Underlying Cause of Early-Onset Recessive Rod-Cone Degeneration”. Cold Spring Harb Mol Case Stud 8 (7).

Inas F. Aboobakar, MD

Profiles Harvard Catalist Profile Mass Eye and Ear (clinical) Mass Eye and Ear (research)