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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELANE

Variant:p.H213H

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ELANE

NM_001972.4:p.H213H

hg38:chr19:855999 C>T

Associated Papers

Comparison of Gene-Editing Approaches for Severe Congenital Neutropenia-Causing Mutations in the ELANE Gene.

Ritter MU et al.

The Crispr Journal, 2024

39436283 (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."