Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.R153G
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SHOX

NM_000451.4:p.R153G

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

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

SHOX mutations detected by FISH and direct sequencing in patients with short stature.

Stuppia L et al.

Journal of Medical Genetics, 2003

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis.

Falcinelli C et al.

Journal of Medical Genetics, 2002

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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."