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Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism
Haploinsufficiency of DYRK1A is a cause of a neurodevelopmental syndrome termed mental retardation autosomal dominant 7 (MRD7). Several truncation mutations, microdeletions and missense variants have been identified and result in a recognizable phenotypic profile, including microcephaly, intellectua...
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| Veröffentlicht in: | Biol Open |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
The Company of Biologists Ltd
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5936063/ https://ncbi.nlm.nih.gov/pubmed/29700199 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/bio.032862 |
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