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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELANE

Variant:p.S202fs

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ELANE

NM_001972.4:p.S202fs

hg38:chr19:855964 T>TN

Associated Papers

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

Makaryan V et al.

Current Opinion in Hematology, 2015

25427142 (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."