The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
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author: Karolina Kaminska Francesca Cancellieri Ana Berta Sousa Katarina Cisarova Liliana P. Paris Luísa Coutinho-Santos Mathieu Quinodoz Rosanna Pescini Gobert Virginie G. Peter Carlo Rivolta Cristina Santos |
| Publication date | February 13, 2023 |
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