5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity
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DOI: 10.1002/humu.24029
Abstract: In the human genome, most 5′ splice sites (~99%) employ the canonical GT dinucleotide whereas a small minority (~1%) use the noncanonical GC dinucleotide. The functionality and pathogenicity of 5′ splice site GT>GC (+2T>C) variants… read more here.
Keywords: splice; site variants; terms functionality; splice site ... See more keywords