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De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome
De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with Bainbridge–Ropers syndrome (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and intellectual dis...
Gorde:
| Argitaratua izan da: | Hum Mol Genet |
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| Egile Nagusiak: | , , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Oxford University Press
2016
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4731023/ https://ncbi.nlm.nih.gov/pubmed/26647312 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv499 |
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