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Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family
The term multilocus imprinting disturbance (MLID) describes the aberrant methylation of multiple imprinted loci in the genome, and MLID occurs in patients suffering from imprinting disorder carrying methylation defects. First data indicate that functional variants in factors expressed from both the...
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| Vydáno v: | Eur J Hum Genet |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Springer International Publishing
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8115525/ https://ncbi.nlm.nih.gov/pubmed/33221824 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00762-0 |
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