Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.V161A
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SHOX

NM_000451.4:p.V161A

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

Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.

Montalbano A et al.

Embo Molecular Medicine, 2016

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."