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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HAX1

Variant:p.E59insFs

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HAX1

NM_006118.4:p.E59insFs

hg38:chr1:154273457 G>GC

Associated Papers

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

Germeshausen M et al.

Blood, 2008

18337561 (PubMed )

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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."