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...
Main Authors: | Masha Kolesnikova, Jin Kyun Oh, Jiali Wang, Winston Lee, Jana Zernant, Pei-Yin Su, Angela H. Kim, Laura A. Jenny, Tingting Yang, Rando Allikmets, Stephen H. Tsang |
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Format: | Article |
Language: | English |
Published: |
American Society for Clinical investigation
2022-12-01
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Series: | JCI Insight |
Subjects: | |
Online Access: | https://doi.org/10.1172/jci.insight.162687 |
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