Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.L154P
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SHOX

NM_000451.4:p.L154P

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

The novel human SHOX allelic variant database.

Niesler B et al.

Human Mutation, 2007

SHOX at a glance: from gene to protein.

Marchini A et al.

Archives of Physiology and Biochemistry, 2007

The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.

Ross JL et al.

The Journal of Pediatrics, 2005

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.

Schneider KU et al.

Human Mutation, 2005

Phenotypes Associated with SHOX Deficiency.

Ross JL et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

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