Varaico: Literature-Extracted Genetic Variants

Gene:TRIO
Variant:p.N1080I
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TRIO

NM_007118.4:p.N1080I

Associated Papers

Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.

Bonnet M et al.

Molecular Psychiatry, 2023

Autoinhibition of the GEF activity of cytoskeletal regulatory protein Trio is disrupted in neurodevelopmental disorder-related genetic variants.

Bircher JE et al.

The Journal of Biological Chemistry, 2022

Rare coding variants in ten genes confer substantial risk for schizophrenia.

Singh T et al.

Nature, 2022

Autism Spectrum Disorder/Intellectual Disability-Associated Mutations in Trio Disrupt Neuroligin 1-Mediated Synaptogenesis.

Tian C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021

More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly.

Kloth K et al.

Neurogenetics, 2021

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.

Schultz-Rogers L et al.

Bmc Medical Genetics, 2020

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.

Sadybekov A et al.

Nature Communications, 2017

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

Pengelly RJ et al.

Journal of Medical Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."