Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.K116E
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SHOX

NM_000451.4:p.K116E

Associated Papers

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

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

Rappold G et al.

Journal of Medical Genetics, 2007

Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial.

Blum WF et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

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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."