Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.R119G
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SHOX

NM_000451.4:p.R119G

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

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

Tooze RS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

37154149 (PubMed )
Supplement: mmc2.pdf

Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis.

Lucchetti L et al.

Frontiers in Endocrinology, 2018

SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.

Binder G et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

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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."