Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.S576*
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ATRX

NM_000489.6:p.S576*

Associated Papers

Modeling the novel SERD elacestrant in cultured fulvestrant-refractory HR-positive breast circulating tumor cells.

Dubash TD et al.

Breast Cancer Research and Treatment, 2023

37318638 (PubMed )
Supplement: 10549_2023_6998_MOESM1_ESM.pdf

A Gene Panel Associated With Abemaciclib Utility in ESR1-Mutated Breast Cancer After Prior Cyclin-Dependent Kinase 4/6-Inhibitor Progression.

Brett JO et al.

Jco Precision Oncology, 2023

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

McKnight D et al.

Jama Neurology, 2022

36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.

Vaisfeld A et al.

Genes, 2022

The chromatin remodeller ATRX facilitates diverse nuclear processes, in a stochastic manner, in both heterochromatin and euchromatin.

Truch J et al.

Nature Communications, 2022

35710802 (PubMed )
Supplement: 41467_2022_31194_MOESM1_ESM.pdf

Mutations in the chromatin-associated protein ATRX.

Gibbons RJ et al.

Human Mutation, 2008

A new detection method for ATRX gene mutations using a mismatch-specific endonuclease.

Wada T et al.

American Journal of Medical Genetics. Part A, 2006

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."