Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.L245P
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ATRX

NM_000489.6:p.L245P

Associated Papers

Mutations in the chromatin-associated protein ATRX.

Gibbons RJ et al.

Human Mutation, 2008

Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX.

Argentaro A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

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

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].

Szczałuba K et al.

Medycyna Wieku Rozwojowego, 0

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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."