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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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Hum Mutat |
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| Prif Awduron: | , , , , , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
John Wiley and Sons Inc.
2019
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| Pynciau: | |
| Mynediad Ar-lein: | 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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