Yun-Shan Guo

The COL4A3 c.3418+1G>T variant causes exon 39 skipping in minigene assays: functional and exploratory structural analyses

Background Canonical splice-site variants are an important cause of Alport syndrome, but the transcript consequences of many heterozygous COL4A3 variants remain experimentally unverified. We characterized COL4A3 c.3418 + 1G>T in a 38-year-old woman with persistent isolated microscopic hematuria. Notably, the proband’s...