Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.C172*
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SHOX

NM_000451.4:p.C172*

Associated Papers

Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.

Bunyan DJ et al.

American Journal of Medical Genetics. Part A, 2013

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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."