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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ECSIT

Variant:p.D125_L126del1

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ECSIT

NM_016581.5:p.D125_L126del1

hg38:chr19:11513941 AGGT>A

Associated Papers

Recurrent ECSIT mutation encoding V140A triggers hyperinflammation and promotes hemophagocytic syndrome in extranodal NK/T cell lymphoma.

Wen H et al.

Nature Medicine, 2018

29291352 (PubMed )

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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."