Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.L1746S
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ATRX

NM_000489.6:p.L1746S

Associated Papers

A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.

Stabile M et al.

Molecular Medicine Reports, 2020

α-Thalassemia, mental retardation, and myelodysplastic syndrome.

Gibbons RJ

Cold Spring Harbor Perspectives in Medicine, 2012

Functional significance of mutations in the Snf2 domain of ATRX.

Mitson M et al.

Human Molecular Genetics, 2011

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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."