Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.L47P
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ELANE

NM_001972.4:p.L47P

Associated Papers

Novel ELANE mutation causing severe congenital neutropenia with unpredictable fluctuations in neutrophil counts.

Cachia J et al.

Pediatric Blood & Cancer, 2023

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

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."