Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

A challenge in molecular diagnosis and genetic counseling is the interpretation of variants of uncertain significance. Proper pathogenicity classification of new variants is important for the conclusion of molecular diagnosis and the medical management of patient treatments. The purpose of this stud...

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Detalles Bibliográficos
Autores principales: Motta, Fabiana L., Martin, Renan P., Porto, Fernanda B. O., Wohler, Elizabeth S., Resende, Rosane G., Gomes, Caio P., Pesquero, João B., Sallum, Juliana M. F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7016655/
https://www.ncbi.nlm.nih.gov/pubmed/31878136
http://dx.doi.org/10.3390/genes11010024

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7016655/
https://www.ncbi.nlm.nih.gov/pubmed/31878136
http://dx.doi.org/10.3390/genes11010024

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