Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.V356M
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TBR1

NM_006593.4:p.V356M

Associated Papers

Molecular Insights Into the Binding Dynamics of Transcription Factor TBR1 to T-box DNA Sequences.

Hartman R et al.

Journal of Molecular Biology, 2026

Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.

Sollis E et al.

Human Molecular Genetics, 2023

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.

Sapey-Triomphe LA et al.

Human Genomics, 2020

Functional characterization of TBR1 variants in neurodevelopmental disorder.

den Hoed J et al.

Scientific Reports, 2018

Brain-specific transcriptional regulator T-brain-1 controls brain wiring and neuronal activity in autism spectrum disorders.

Huang TN et al.

Frontiers in Neuroscience, 2015

De novo TBR1 mutations in sporadic autism disrupt protein functions.

Deriziotis P et al.

Nature Communications, 2014

Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene.

Bacchelli E et al.

Molecular Psychiatry, 2003

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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."