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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LIFR

Variant:p.I719fs

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LIFR

NM_001127671.2:p.I719fs

hg38:chr5:38490202 TAT>N

Associated Papers

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

Béziat V et al.

The Journal of Experimental Medicine, 2020

32207811 (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."