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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELANE

Variant:p.S126P

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ELANE

NM_001972.4:p.S126P

hg38:chr19:855573 T>C

Associated Papers

Identifying patients with neutrophil elastase (ELANE) mutations from patients with a presumptive diagnosis of autoimmune neutropenia.

Lee WI et al.

Immunobiology, 2013

23206890 (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."