Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.E1450fs
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ATRX

NM_000489.6:p.E1450fs

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

Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants.

Stundon JL et al.

Neuro-oncology, 2023

36541551 (PubMed )
Supplement: noac278_suppl_supplementary_table_s1.xlsx › Sheet_1
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