Varaico: Literature-Extracted Genetic Variants

Gene:TBX20
Variant:p.S13S
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TBX20

NM_001077653.2:p.S13S

Associated Papers

Characterization of genomic variants associated with congenital heart disease in patients from southwestern Colombian.

Grueso Cerón AL et al.

Heliyon, 2024

Screening and evaluation of TBX20 and CITED2 mutations in children with congenital cardiac septal defects: Correlation with cardiac troponin T and caspase-3.

Taha M et al.

Gene, 2023

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.

Wang Y et al.

Scientific Reports, 2016

27139165 (PubMed )
Supplement: srep25404-s1.pdf

Characterization of TBX20 in human hearts and its regulation by TFAP2.

Hammer S et al.

Journal of Cellular Biochemistry, 2008

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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."