Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.G56R
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ELANE

NM_001972.4:p.G56R

Associated Papers

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.

Horwitz MS et al.

Hematology/oncology Clinics of North America, 2013

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

Xia J et al.

British Journal of Haematology, 2009

Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.

Smith BN et al.

British Journal of Haematology, 2009

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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."