p(HBP:"NP_001387.2:p.Arg205del") positiveCorrelation path(MESH:"Autism Spectrum Disorder")

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PubMed:28167836

We conclude that the Dyrk1a dosage is critical for proper neurite and axonal outgrowth and that the two nonsense mutations, R205X and E239X, are loss-of-function mutants.

Related Edges 7

• act(p(HGNC:DYRK1A)) regulates a(HBP:Neurites)
• act(p(HGNC:DYRK1A)) regulates a(GO:axon)
• p(HBP:"NP_001387.2:p.Arg205del") decreases act(p(HGNC:DYRK1A))
• p(HBP:"NP_001387.2:p.Glu239del") decreases act(p(HGNC:DYRK1A))
• p(HBP:"NP_001387.2:p.Glu239del") positiveCorrelation path(MESH:"Autism Spectrum Disorder")
• path(MESH:"Autism Spectrum Disorder") positiveCorrelation p(HBP:"NP_001387.2:p.Glu239del")
• path(MESH:"Autism Spectrum Disorder") positiveCorrelation p(HBP:"NP_001387.2:p.Arg205del")

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If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.

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