Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.E28D
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ATRX

NM_000489.6:p.E28D

Associated Papers

Functional analysis of telomere maintenance mechanisms is more informative than immunohistochemistry for ATRX mutation interpretation in Gliomas.

Guerriau C et al.

Acta Neuropathologica Communications, 2025

41422096 (PubMed )
Supplement: 40478_2025_2164_MOESM1_ESM.xlsx › Feuil1

Haploinsufficiency of NFKBIA reshapes the epigenome antipodal to the IDH mutation and imparts disease fate in diffuse gliomas.

Bredel M et al.

Cell Reports. Medicine, 2023

37343523 (PubMed )
Supplement: mmc2.zip › CR-MEDICINE-D-22-00261_R4_Table_S2.xlsx › Population_1

Systematic Analysis of Splice-Site-Creating Mutations in Cancer.

Jayasinghe RG et al.

Cell Reports, 2018

29617666 (PubMed )
Supplement: NIHMS958979-supplement-2.xlsx › All_Calls
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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."