Varaico: Literature-Extracted Genetic Variants

Gene:HAX1
Variant:p.F141L
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HAX1

NM_006118.4:p.F141L

Associated Papers

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

Roques G et al.

Pediatric Blood & Cancer, 2014

A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations.

Faiyaz-Ul-Haque M et al.

European Journal of Pediatrics, 2010

A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).

Faiyaz-Ul-Haque M et al.

Clinical Genetics, 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."