Varaico: Literature-Extracted Genetic Variants

Gene:HAX1
Variant:p.P58_E59insFs
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HAX1

NM_006118.4:p.P58_E59insFs

Associated Papers

Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.

Roques G et al.

Pediatric Blood & Cancer, 2014

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."