Varaico: Literature-Extracted Genetic Variants

Gene:XRCC5
Variant:p.K238Q
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XRCC5

NM_021141.4:p.K238Q

Associated Papers

Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.

Harvey DC et al.

Frontiers in Cardiovascular Medicine, 2023

37840956 (PubMed )
Supplement: Table1.xlsx › Supp_Table_1

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

High throughput in vivo functional validation of candidate congenital heart disease genes in Drosophila.

Zhu JY et al.

Elife, 2017

28084990 (PubMed )
Supplement: elife-22617-supp1.xlsx › Sheet1
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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."