期刊
GENOME MEDICINE
卷 8, 期 -, 页码 -出版社
BIOMED CENTRAL LTD
DOI: 10.1186/s13073-016-0277-0
关键词
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资金
- NCI NIH HHS [R01 CA197139, 1R01CA197139] Funding Source: Medline
- NIDDK NIH HHS [1R01DK090382, R01 DK090382] Funding Source: Medline
- NINDS NIH HHS [R01 NS079231, 1R01NS079231] Funding Source: Medline
Exonic enhancers (eExons) are coding exons that also function as enhancers of the gene in which they reside or (a) nearby gene(s). Mutations that affect the enhancer activity of these eExons have been associated with human disease. Therefore, eExon mutations should be taken into account in exome and genome sequencing projects, not only because of the ability of these mutations to modify the encoded proteins but also because of their effects on enhancer activity.
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