Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.L47R
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ELANE

NM_001972.4:p.L47R

Associated Papers

Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.

Meng X et al.

Blood Advances, 2024

Clinical and molecular characteristics of Thai patients with ELANE-related neutropaenia.

Ittiwut R et al.

Journal of Clinical Pathology, 2022

Two engineered eglin c mutants potently and selectively inhibiting kexin or furin.

Liu ZX et al.

Febs Letters, 2004

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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."