Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.R168L
Back to variants list

SHOX

NM_000451.4:p.R168L

Associated Papers

Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.

Cain B et al.

Biorxiv : the Preprint Server for Biology, 2025

41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

Rappold G et al.

Journal of Medical Genetics, 2007

Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial.

Blum WF et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

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."