Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.K1733E
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ATRX

NM_000489.6:p.K1733E

Associated Papers

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

van der Sanden BPGH et al.

European Journal of Human Genetics : Ejhg, 2023

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

Ren X et al.

Oncology Letters, 2018

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

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

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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."