Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.M44insFs
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ELANE

NM_001972.4:p.M44insFs

Associated Papers

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

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

Ishikawa N et al.

Journal of Medical Genetics, 2008

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).

Klein C et al.

Nature Genetics, 2007

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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."