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Biallelic variants in DNA2 cause microcephalic primordial dwarfism
Microcephalic primordial dwarfism (MPD) is a group of rare single‐gene disorders characterized by the extreme reduction in brain and body size from early development onwards. Proteins encoded by MPD‐associated genes play important roles in fundamental cellular processes, notably genome replication a...
Uloženo v:
| Vydáno v: | Hum Mutat |
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| Hlavní autoři: | , , , , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6773220/ https://ncbi.nlm.nih.gov/pubmed/31045292 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23776 |
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