Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.Q373R
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TBR1

NM_006593.4:p.Q373R

Associated Papers

Novel TBR1 c.1303C>T Variant Led to Diagnosis of Intellectual Developmental Disorder with Autism and Speech Delay: Application of Comprehensive Family-Based Whole-Genome Analysis.

Ćuk M et al.

Genes, 2025

Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.

Heng JI et al.

Journal of Neurochemistry, 2022

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Nambot S et al.

European Journal of Human Genetics : Ejhg, 2020

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
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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."