Varaico: Literature-Extracted Genetic Variants

Gene:IL23A
Variant:p.S46I
Back to variants list

IL23A

NM_016584.3:p.S46I

Associated Papers

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Choufani S et al.

American Journal of Human Genetics, 2022

36130591 (PubMed )
Supplement: mmc3.pdf
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."