Pathogenicity Reclasssification of <i>RPE65</i> Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

Pathogenicity Reclasssification of <i>RPE65</i> 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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Bibliographic Details
Main Authors: Fabiana L. Motta, Renan P. Martin, Fernanda B. O. Porto, Elizabeth S. Wohler, Rosane G. Resende, Caio P. Gomes, João B. Pesquero, Juliana M. F. Sallum
Format: Article
Language:English
Published: MDPI AG 2019-12-01
Series:Genes
Subjects:
<i>rpe65</i> gene
variant of uncertain significance (vus)
likely pathogenic variant
leber congenital amaurosis (lca)
early-onset retinal dystrophy (eord)
Online Access:https://www.mdpi.com/2073-4425/11/1/24

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https://www.mdpi.com/2073-4425/11/1/24

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