Varaico: Literature-Extracted Genetic Variants

Gene:HAX1
Variant:p.L130R
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HAX1

NM_006118.4:p.L130R

Associated Papers

HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation.

Fan Y et al.

The Journal of Clinical Investigation, 2022

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

Roques G et al.

Pediatric Blood & Cancer, 2014

Digenic mutations in severe congenital neutropenia.

Germeshausen M et al.

Haematologica, 2010

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

Lanciotti M et al.

Haematologica, 2010

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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."