Varaico: Literature-Extracted Genetic Variants

Gene:EPS8L2
Variant:p.K294fs
Back to variants list

EPS8L2

NM_022772.4:p.K294fs

Associated Papers

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Horbacz M et al.

Frontiers in Medicine, 2025

41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."