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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELANE

Variant:p.C187*

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ELANE

NM_001972.4:p.C187*

hg38:chr19:855758 C>A

Associated Papers

Mouse models of neutropenia reveal progenitor-stage-specific defects.

Muench DE et al.

Nature, 2020

32494068 (PubMed )

Supplement: NIHMS1566237-supplement-1566237_Supp_Tab1.xlsx › SCN_Patients

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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."