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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CBL

Variant:p.G525delins

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CBL

NM_005188.4:p.G525delins

hg38:chr11:119285199 GC>CT

Associated Papers

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.

David C et al.

The Journal of Experimental Medicine, 2024

38869500 (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."