Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.L1889W
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ATRX

NM_000489.6:p.L1889W

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

A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.

Hamzeh AR et al.

Irish Journal of Medical Science, 2017

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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."