Varaico: Literature-Extracted Genetic Variants

Gene:HAX1
Variant:p.E31fs
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HAX1

NM_006118.4:p.E31fs

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.

Subasri V et al.

Cancer Research Communications, 2023

37377903 (PubMed )
Supplement: crc-22-0402-s06.xlsx › C._Class3_SNVs_indels

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

Roques G et al.

Pediatric Blood & Cancer, 2014

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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."