Varaico: Literature-Extracted Genetic Variants

Gene:TRIO
Variant:p.L1124S
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TRIO

NM_007118.4:p.L1124S

Associated Papers

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

Gazdagh G et al.

American Journal of Medical Genetics. Part A, 2023

Modeling human mutations to understand TRIO GEF function during development.

Fingleton E et al.

Trends in Neurosciences, 2023

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

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

Singh T et al.

Nature, 2022

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

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF et al.

Nature Communications, 2017

29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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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."