Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.R246L
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ATRX

NM_000489.6:p.R246L

Associated Papers

Mutant ATRX: pathogenesis of ATRX syndrome and cancer.

Yuan K et al.

Frontiers in Molecular Biosciences, 2024

Detection of ictal apnea refines the clinical spectrum of ATRX syndrome.

Banat G et al.

Epilepsy & Behavior Reports, 2024

Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review.

Cong Y et al.

Frontiers in Pediatrics, 2022

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

Denaturing HPLC-based assay for detection of ATRX gene mutations.

Falco M et al.

Clinical Chemistry, 2005

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

Borgione E et al.

Human Mutation, 2003

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

New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.

Fichera M et al.

Human Mutation, 1998

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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."