Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.H189N
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ATRX

NM_000489.6:p.H189N

Associated Papers

ATRX ADD domain is a versatile module for recognizing macroH2A, H3, and beyond.

Yan S et al.

Acta Biochimica Et Biophysica Sinica, 2025

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

Ren X et al.

Oncology Letters, 2018

ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome.

Iwase S et al.

Nature Structural & Molecular Biology, 2011

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

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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."