Varaico: Literature-Extracted Genetic Variants

Gene:HAX1
Variant:p.Q155insFs
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HAX1

NM_006118.4:p.Q155insFs

Associated Papers

Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.

Zhang X et al.

Ebiomedicine, 2022

35785618 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_2b

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

Roques G et al.

Pediatric Blood & Cancer, 2014

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Alsalem AB et al.

Plos Genetics, 2013

24367280 (PubMed )
Supplement: pgen.1004030.s008.xlsx › Sheet1

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

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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."