Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.W64*
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TBX5

NM_181486.4:p.W64*

Associated Papers

Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect.

Qiao F et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2021

Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.

Yamak A et al.

The Journal of Biological Chemistry, 2015

A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis.

Atik T et al.

Journal of Tropical Pediatrics, 2014

Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.

Fan C et al.

Journal of Medical Genetics, 2003

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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."