Varaico: Literature-Extracted Genetic Variants

Gene:HMGB3
Variant:p.E193del1
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HMGB3

NM_005342.4:p.E193del1

Associated Papers

Characterization of aberrant splicing in pediatric central nervous system tumors reveals CLK1 as a candidate oncogenic dependency.

Naqvi AS et al.

Biorxiv : the Preprint Server for Biology, 2025

39149264 (PubMed )
Supplement: media-5.xlsx › E_sf_mutations

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.

Zi F et al.

Bmc Medical Genomics, 2023

RUNX1 mutations in blast-phase chronic myeloid leukemia associate with distinct phenotypes, transcriptional profiles, and drug responses.

Adnan Awad S et al.

Leukemia, 2021

32782381 (PubMed )
Supplement: 41375_2020_1011_MOESM5_ESM.xlsx › Mutation_in_Australian_cohort
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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."