Varaico: Literature-Extracted Genetic Variants

Gene:TBX3
Variant:p.A192T
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TBX3

NM_005996.4:p.A192T

Associated Papers

Analysis of pathogenic variants in 605 Chinese children with non-syndromic cardiac conotruncal defects based on targeted sequencing.

Ye J et al.

Genomics, 2023

Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing.

Xie H et al.

Human Genomics, 2018

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s021.xlsx › EC.Drivers.Edited

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.

Hendricks AE et al.

Scientific Reports, 2017

28663568 (PubMed )
Supplement: 41598_2017_3054_MOESM1_ESM.xlsx › Supplementary_Table_2
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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."