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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...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Silva, Rita Sousa, Salles, Mariana Vallim, Motta, Fabiana Louise, Sallum, Juliana Maria Ferraz
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6994576/
https://ncbi.nlm.nih.gov/pubmed/32005865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-58243-9
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