Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.C194*
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SHOX

NM_000451.4:p.C194*

Associated Papers

Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature.

Sandberg ES et al.

Case Reports in Endocrinology, 2017

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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."