Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.A166T
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ELANE

NM_001972.4:p.A166T

Associated Papers

In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis.

Shinwari K et al.

Thescientificworldjournal, 2022

[Clinical and genetic analysis of four patients with congenital neutropenia].

Zhu H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

Digenic mutations in severe congenital neutropenia.

Germeshausen M et al.

Haematologica, 2010

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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."