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Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):728-752. doi: 10.1002/ajmg.c.31828. Epub 2020 Aug 31.
Am J Med Genet C Semin Med Genet. 2020.
PMID: 32865313
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.
Motta FL, Martin RP, Porto FBO, Wohler ES, Resende RG, Gomes CP, Pesquero JB, Sallum JMF.
Motta FL, et al. Among authors: resende rg.
Genes (Basel). 2019 Dec 24;11(1):24. doi: 10.3390/genes11010024.
Genes (Basel). 2019.
PMID: 31878136
Free PMC article.
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