Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay
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DOI: 10.1002/mgg3.2395
Abstract: X‐linked Alport syndrome (XLAS) is an inherited renal disease caused by rare variants of COL4A5 on chromosome Xq22. Many studies have indicated that single nucleotide variants (SNVs) in exons can disrupt normal splicing process of… read more here.
Keywords: gene alter; variants col4a5; col4a5 gene; exonic variants ... See more keywords