Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.E154insFs
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ETV6

NM_001987.5:p.E154insFs

Associated Papers

A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome.

Cai J et al.

Clinical 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."