Varaico: Literature-Extracted Genetic Variants

Gene:TRIO
Variant:p.T1075I
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TRIO

NM_007118.4:p.T1075I

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

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

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