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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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Dettagli Bibliografici
Pubblicato in:Ann Clin Transl Neurol
Autori principali: Brunet, Theresa, Radivojkov‐Blagojevic, Milena, Lichtner, Peter, Kraus, Verena, Meitinger, Thomas, Wagner, Matias
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
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Accesso online: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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