Varaico: Literature-Extracted Genetic Variants

Gene:BTN2A1
Variant:p.R378Q
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BTN2A1

NM_007049.5:p.R378Q

Associated Papers

Exome sequencing identifies novel genetic variants associated with varicose veins.

Zhang DD et al.

Plos Genetics, 2024

38980841 (PubMed )
Supplement: pgen.1011339.s009.xlsx › Sheet1

Shared genetic architecture of hernias: A genome-wide association study with multivariable meta-analysis of multiple hernia phenotypes.

Ahmed WU et al.

Plos One, 2022

36584111 (PubMed )
Supplement: pone.0272261.s016.pdf

Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Khoruddin NA et al.

Scientific Reports, 2021

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
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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."