Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.Y1758*
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ATRX

NM_000489.6:p.Y1758*

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

Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile.

Astolfi A et al.

Cancers, 2020

32751892 (PubMed )
Supplement: cancers-12-02126-s001.zip › cancers-864725-supple › cancers-864725-supple-proofed.xlsx › Table_S2

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

Badens C et al.

Clinical Genetics, 2006

Molecular-clinical spectrum of the ATR-X syndrome.

Gibbons RJ et al.

American Journal of Medical Genetics, 2000

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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."