Varaico: Literature-Extracted Genetic Variants

Gene:HAX1
Variant:p.Q137*
Back to variants list

HAX1

NM_006118.4:p.Q137*

Associated Papers

Kostmann Syndrome With Neurological Abnormalities: A Case Report and Literature Review.

Lyu B et al.

Frontiers in Pediatrics, 2020

Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).

Klein C

Journal of Clinical Immunology, 2017

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

Roques G et al.

Pediatric Blood & Cancer, 2014

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

Lanciotti M et al.

Haematologica, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."