Varaico: Literature-Extracted Genetic Variants

Gene:TAB2
Variant:p.S588_L589Splc
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TAB2

NM_001292034.3:p.S588_L589Splc

Associated Papers

TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.

Hanson J et al.

Clinical Genetics, 2022

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Edwards JJ et al.

Jacc. Basic to Translational Science, 2020

32368696 (PubMed )
Supplement: mmc3.xlsx › Cases

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Sevim Bayrak C et al.

Genome Medicine, 2020

31941532 (PubMed )
Supplement: 13073_2019_709_MOESM1_ESM.xlsx › S2
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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."