Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.R143P
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ELANE

NM_001972.4:p.R143P

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

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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."