Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.I227T
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TBX5

NM_181486.4:p.I227T

Associated Papers

Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.

Jeong R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.

Yamoto K et al.

Congenital Anomalies, 2024

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Sevim Bayrak C et al.

Genome Medicine, 2020

31941532 (PubMed )
Supplement: 13073_2019_709_MOESM1_ESM.xlsx › S2
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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."