Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

BACKGROUND: GNB1 encodes a subunit of a heterotrimeric G‐protein complex that transduces intracellular signaling cascades. Disruptions to the gene have previously been shown to be embryonic lethal in knockout mice and to cause complex neurodevelopmental disorders in humans. To date, the majority of...

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Bibliografiska uppgifter
I publikationen:Mol Genet Genomic Med
Huvudupphovsmän: Schultz‐Rogers, Laura, Masuho, Ikuo, Pinto e Vairo, Filippo, Schmitz, Christopher T., Schwab, Tanya L., Clark, Karl J., Gunderson, Lauren, Pichurin, Pavel N., Wierenga, Klaas, Martemyanov, Kirill A., Klee, Eric W.
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2020
Ämnen:
Original Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7667315/
https://ncbi.nlm.nih.gov/pubmed/32918542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1477
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