Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.R1742K
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ATRX

NM_000489.6:p.R1742K

Associated Papers

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

Cong Y et al.

Frontiers in Pediatrics, 2022

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

Ren X et al.

Oncology Letters, 2018

A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus?

Fichera M et al.

Journal of Medical Genetics, 2002

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."