Genome-wide detection of human variants that disrupt intronic branchpoints
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DOI: 10.1101/2022.04.18.488668
Abstract: Pre-mRNA splicing is initiated with the recognition of a single-nucleotide intronic branchpoint (BP) within a BP motif by spliceosome elements. Fifty-six rare variants in 44 human genes have been reported to alter splicing and cause… read more here.
Keywords: detection human; human variants; genome wide; variants disrupt ... See more keywords