Intronic variants in inborn errors of metabolism: Beyond the exome
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DOI: 10.3389/fgene.2022.1031495
Abstract: Non-coding regions are areas of the genome that do not directly encode protein and were initially thought to be of little biological relevance. However, subsequent identification of pathogenic variants in these regions indicates there are… read more here.
Keywords: intronic variants; variants inborn; inborn errors; errors metabolism ... See more keywords