Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.T72K
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TBX5

NM_181486.4:p.T72K

Associated Papers

Conotruncal Heart Defects: A Narrative Review of Molecular Genetics, Genomics Research and Innovation.

Viswanathan S et al.

Omics : a Journal of Integrative Biology, 2024

Identification of deleterious single nucleotide polymorphism (SNP)s in the human TBX5 gene & prediction of their structural & functional consequences: An in silico approach.

Mahfuz AMUB et al.

Biochemistry and Biophysics Reports, 2021

Gerbode Ventricular Septal Defect -A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series.

Borkar Y et al.

Journal of Clinical and Diagnostic Research : Jcdr, 2017

A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.

Al-Qattan MM et al.

Saudi Medical Journal, 2015

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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."