Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.M66R
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ELANE

NM_001972.4:p.M66R

Associated Papers

[Congenital neutropenia caused by ELANE gene mutation: a case report].

Liu XX et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2023

Mutant allele knockout with novel CRISPR nuclease promotes myelopoiesis in ELANE neutropenia.

Sabo P et al.

Molecular Therapy. Methods & Clinical Development, 2022

35795780 (PubMed )
Supplement: mmc1.pdf

ELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer: A case report.

Chen X et al.

Medicine, 2018

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

Makaryan V et al.

Current Opinion in Hematology, 2015

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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."