Varaico: Literature-Extracted Genetic Variants

Gene:SOX18
Variant:p.Q181*
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SOX18

NM_018419.3:p.Q181*

Associated Papers

A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome.

Wangberg H et al.

American Journal of Medical Genetics. Part A, 2018

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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."