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The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance
Kabuki syndrome (KS) is caused by mutations in KMT2D, which is a histone methyltransferase involved in methylation of H3K4, a histone marker associated with DNA methylation. Analysis of >450,000 CpGs in 24 KS patients with pathogenic mutations in KMT2D and 216 controls, identified 24 genomic regi...
Guardat en:
| Publicat a: | Epigenetics |
|---|---|
| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Taylor & Francis
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5788422/ https://ncbi.nlm.nih.gov/pubmed/28933623 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/15592294.2017.1381807 |
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