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Uniparental disomy is a chromosomic disorder in the first place
BACKGROUND: Uniparental disomy (UPD) is well-known to be closely intermingled with imprinting disorders. Besides, UPD can lead to a disease by ‘activation’ of a recessive gene mutation or due to incomplete (cryptic) trisomic rescue. Corresponding to all common theories how UPD forms, it takes place...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8851757/ https://www.ncbi.nlm.nih.gov/pubmed/35177099 http://dx.doi.org/10.1186/s13039-022-00585-2 |