Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.A127P
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ELANE

NM_001972.4:p.A127P

Associated Papers

Novel Disease-Associated Missense Single-Nucleotide Polymorphisms Variants Predication by Algorithms Tools and Molecular Dynamics Simulation of Human TCIRG1 Gene Causing Congenital Neutropenia and Osteopetrosis.

Shinwari K et al.

Frontiers in Molecular Biosciences, 2022

Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.

Thusberg J et al.

Human Mutation, 2006

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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."