Varaico: Literature-Extracted Genetic Variants

Gene:EYA2
Variant:p.E507Q
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EYA2

NM_005244.5:p.E507Q

Associated Papers

Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.

Winzig F et al.

The Journal of Infectious Diseases, 2025

40848267 (PubMed )
Supplement: jiaf448_supplementary_data.zip › Supplementary_table_5_gene_hits_in_WES_analysis.xlsx › Sheet2

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

NTHL1 is a recessive cancer susceptibility gene.

Nurmi AK et al.

Scientific Reports, 2023

38036545 (PubMed )
Supplement: 41598_2023_47441_MOESM1_ESM.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."