Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.Q211*
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SHOX

NM_000451.4:p.Q211*

Associated Papers

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

Gürsoy S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2020

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

Aza-Carmona M et al.

Plos One, 2014

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.

Aza-Carmona M et al.

Human Molecular Genetics, 2011

Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.

Yoshida T et al.

American Journal of Human 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."