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Article Abstract
CHARGE syndrome is a rare autosomal dominant disease that is typically caused by heterozygous mutations. A variant in a splicing acceptor site (NM_017780.3:c.7165-4A>G) was identified in a Japanese boy with CHARGE syndrome. This variant has been considered to be an "unclassified variant" due to its position outside the consensus splicing sites. In this study, abnormal splicing derived from this known variant was confirmed by cDNA sequencing.
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| http://dx.doi.org/10.1038/hgv.2018.6 | DOI Listing |
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