Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES（2023）
关键词
PAX6,congenital aniridia,non-canonical splicing sites,deep-intronic variants,minigene splicing assays,long-read sequencing,MinION nanopore sequencing
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