Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
Weisschuh, Nicole, Sturm, Marc, Baumann, Britta, Audo, Isabelle, Ayuso, Carmen, Bocquet, Beatrice, Branham, Kari, Brooks, Brian P., Catalá‐Mora, Jaume, Giorda, Roberto, Heckenlively, John R., HufnagelJournal:
Human Mutation
DOI:
10.1002/humu.23920
Date:
September, 2019
File:
PDF, 1.71 MB
2019