Varaico: Literature-Extracted Genetic Variants

Gene:SOX18
Variant:p.V143E
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SOX18

NM_018419.3:p.V143E

Associated Papers

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

Irrthum A et al.

American Journal of Human Genetics, 2003

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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."