Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
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Weisschuh N, et al. Among authors: branham k.
Hum Mutat. 2020 Jan;41(1):255-264. doi: 10.1002/humu.23920. Epub 2019 Sep 30.
Hum Mutat. 2020.
PMID: 31544997
Free PMC article.