Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.G51*
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ELANE

NM_001972.4:p.G51*

Associated Papers

Absence of Neutropenia in Patients With Early Exon Nonsense Mutations in ELANE : Clinical Evidence to Support Gene Therapy Approaches for Severe Congenital Neutropenia.

Joos M et al.

Journal of Pediatric Hematology/oncology, 2024

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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."