Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.R178L
Back to variants list

SOX9

NM_000346.4:p.R178L

Associated Papers

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.

Wang L et al.

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

39854231 (PubMed )
Supplement: pnas.2313978121.sapp.pdf

Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.

Racca JD et al.

Frontiers in Endocrinology, 2022

36568077 (PubMed )
Supplement: DataSheet_1.pdf

A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.

Cui Y et al.

Orphanet Journal of Rare Diseases, 2012

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."