Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.G249D
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ATRX

NM_000489.6:p.G249D

Associated Papers

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Yoon JG et al.

Genome Medicine, 2025

40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST4

Mutant ATRX: pathogenesis of ATRX syndrome and cancer.

Yuan K et al.

Frontiers in Molecular Biosciences, 2024

Alternative lengthening of telomeres phenotype and loss of ATRX expression in sarcomas.

Ren X et al.

Oncology Letters, 2018

α-Thalassemia, mental retardation, and myelodysplastic syndrome.

Gibbons RJ

Cold Spring Harbor Perspectives in Medicine, 2012

The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

Dhayalan A et al.

Human Molecular Genetics, 2011

Molecular-clinical spectrum of the ATR-X syndrome.

Gibbons RJ et al.

American Journal of Medical Genetics, 2000

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.

Villard L et al.

Journal of Medical Genetics, 1999

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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."