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Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection.
J Mol Diagn. 2018 Jan;20(1):87-94. doi: 10.1016/j.jmoldx.2017.09.005. Epub 2017 Oct 20.
J Mol Diagn. 2018.
PMID: 29061375
Free article.
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Aoun M, Passerini I, Chiurazzi P, Karali M, De Rienzo I, Sartor G, Murro V, Filimonova N, Seri M, Banfi S.
Aoun M, et al. Among authors: de rienzo i.
Int J Mol Sci. 2021 Jul 5;22(13):7207. doi: 10.3390/ijms22137207.
Int J Mol Sci. 2021.
PMID: 34281261
Free PMC article.
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