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., HufnagelLanguage:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23920
Date:
September, 2019
File:
PDF, 1.71 MB
english, 2019