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Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype
Paternal uniparental disomy 14 (UPD(14)pat) results in a unique constellation of clinical features, and a similar phenotypic constellation is also caused by microdeletions involving the DLK1-MEG3 intergenic differentially methylated region (IG-DMR) and/or the MEG3-DMR and by epimutations (hypermethy...
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| Главные авторы: | , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group
2012
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3421115/ https://ncbi.nlm.nih.gov/pubmed/22353941 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.26 |
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