Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
Abstract
Our comprehensive cohort of 1100 unrelated achromatopsia (ACHM) patients comprises a considerable number of cases (~5%) harboring only a single pathogenic variant in the major ACHM gene CNGB3. We sequenced the entire CNGB3 locus in 33 of these patients to find a second variant which eventually explained the patients’ phenotype. Forty-seven intronic CNGB3 variants were identified in 28 subjects after a filtering step based on frequency and the...
Paper Details
Title
Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
Published Date
Sep 30, 2019
Journal
Volume
41
Issue
1
Pages
255 - 264
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