Varaico: Literature-Extracted Genetic Variants

Gene:TBR1
Variant:p.T532fs
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TBR1

NM_006593.4:p.T532fs

Associated Papers

Global developmental delay: comparison of developmental profiles between gene-positive/suspicious positive and gene-negative cases.

Shan L et al.

Pediatric Research, 2025

40307499 (PubMed )
Supplement: 41390_2025_4085_MOESM1_ESM.xlsx › Sheet1

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.

Park S et al.

Frontiers in Genetics, 2022

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."