Varaico: Literature-Extracted Genetic Variants

Gene:HAX1
Variant:p.V144insFs
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HAX1

NM_006118.4:p.V144insFs

Associated Papers

Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.

Lanciotti M et al.

Haematologica, 2010

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.

Germeshausen M et al.

Blood, 2008

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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."