Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.R81Splc
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TBX5

NM_181486.4:p.R81Splc

Associated Papers

TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects.

Azab B et al.

Molecular Medicine Reports, 2022

Application of CRISPR-Cas9 gene editing for congenital heart disease.

Seok H et al.

Clinical and Experimental Pediatrics, 2021

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome.

Ríos-Serna LJ et al.

The Application of Clinical Genetics, 2018

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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."