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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Detalles Bibliográficos
Autores principales: Brunet, Theresa, Radivojkov‐Blagojevic, Milena, Lichtner, Peter, Kraus, Verena, Meitinger, Thomas, Wagner, Matias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086002/
https://www.ncbi.nlm.nih.gov/pubmed/32105419
http://dx.doi.org/10.1002/acn3.50992

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086002/
https://www.ncbi.nlm.nih.gov/pubmed/32105419
http://dx.doi.org/10.1002/acn3.50992

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