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Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder
The RBL2 locus has been associated with intelligence and educational attainment but not with a monogenic disorder to date. RBL2 encodes p130, a member of the retinoblastoma protein family, which is involved in mediating neuron survival and death. Previous studies on p130 knockout mice revealing embr...
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| Publié dans: | Ann Clin Transl Neurol |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
John Wiley and Sons Inc.
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7086002/ https://ncbi.nlm.nih.gov/pubmed/32105419 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50992 |
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