A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease

Here, we describe affected members of a 2-generation family with a Stargardt disease–like phenotype caused by a 2–base pair deletion insertion, c.1014_1015delGAinsCT;p.(Trp338_Asn339delinsCysTyr), in BEST1. The variant was identified by whole-exome sequencing, and its pathogenicity was verified thro...

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Detalles Bibliográficos
Autores principales: Kolesnikova, Masha, Oh, Jin Kyun, Wang, Jiali, Lee, Winston, Zernant, Jana, Su, Pei-Yin, Kim, Angela H., Jenny, Laura A., Yang, Tingting, Allikmets, Rando, Tsang, Stephen H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9746905/
https://www.ncbi.nlm.nih.gov/pubmed/36264634
http://dx.doi.org/10.1172/jci.insight.162687

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