Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.R195P
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SHOX

NM_000451.4:p.R195P

Associated Papers

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

Aza-Carmona M et al.

Human Molecular Genetics, 2011

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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."