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Retinitis Pigmentosa Due to Rp1 Biallelic Variants
In the present study, we screened 529 Brazilian individuals affected by inherited retinal disorders. A total of seven unrelated and nonsyndromic patients with RP1 biallelic variants (OMIM # 180100) were diagnosed in our centre and included in the study. They had classic retinitis pigmentosa with dia...
Autores principales: | Silva, Rita Sousa, Salles, Mariana Vallim, Motta, Fabiana Louise, Sallum, Juliana Maria Ferraz |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6994576/ https://www.ncbi.nlm.nih.gov/pubmed/32005865 http://dx.doi.org/10.1038/s41598-020-58243-9 |
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