Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.M1R
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ELANE

NM_001972.4:p.M1R

Associated Papers

Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.

Arunachalam AK et al.

Journal of Clinical Immunology, 2021

Netherton Syndrome: A Genotype-Phenotype Review.

Sarri CA et al.

Molecular Diagnosis & Therapy, 2017

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.

Tidwell T et al.

Blood, 2014

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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."