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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NLRP1

Variant:p.W514L

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NLRP1

NM_033004.4:p.W514L

hg38:chr17:5559155 C>A

Associated Papers

TKI-mediated inhibition of NLRP1 inflammasome restores erythropoiesis in DBA syndrome.

Lozano-Gil JM et al.

Embo Molecular Medicine, 2026

41514124 (PubMed )

Supplement: 44321_2025_368_MOESM4_ESM.pdf

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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."