Varaico: Literature-Extracted Genetic Variants

Gene:TGFB3
Variant:p.R163W
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TGFB3

NM_003239.5:p.R163W

Associated Papers

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12

Case Report: Novel LIM domain-binding protein 3 (LDB3) mutations associated with hypertrophic cardiomyopathy family.

Zheng J et al.

Frontiers in Pediatrics, 2022

The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Bonaventura J et al.

Archives of Medical Science : Ams, 2019

31110529 (PubMed )
Supplement: AMS-15-33903-S1.pdf
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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."