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Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-58243-9
Abstract: 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…
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Keywords:
pigmentosa due;
biallelic variants;
retinitis pigmentosa;
due rp1 ... See more keywords