Varaico: Literature-Extracted Genetic Variants

Gene:TRIO
Variant:p.H1371Y
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TRIO

NM_007118.4:p.H1371Y

Associated Papers

An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO.

Hiraide T et al.

Brain & Development, 2025

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

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Aspromonte MC et al.

Human Mutation, 2019

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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."