Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.M1T
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ELANE

NM_001972.4:p.M1T

Associated Papers

The ATP Synthase Deficiency in Human Diseases.

Galber C et al.

Life (basel, Switzerland), 2021

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

Yu H et al.

The Journal of Allergy and Clinical Immunology, 2016

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

Makaryan V et al.

Current Opinion in Hematology, 2015

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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."