Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
University of Washington · Seattle Children's Hospital · +3 more institutions
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Abstract
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1,353
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- FWCI
- 85.11
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- 100%
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21Topics & keywords
Topics
Keywords
- Kabuki syndrome
- Biology
- Genetics
- Exome sequencing
- Frameshift mutation
- Sanger sequencing
- Exome
- Candidate gene
UN Sustainable Development Goals
- Good health and well-being
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