Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.P142insFs
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SHOX

NM_000451.4:p.P142insFs

Associated Papers

Mutations in gene regulatory elements linked to human limb malformations.

Nowosad K et al.

Journal of Medical Genetics, 2020

A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects.

Poggi H et al.

Hormone Research in Paediatrics, 2015

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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."