Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.H291Y
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ATM

NM_000051.4:p.H291Y

Associated Papers

Unproductive alternative splicing of ATM exon 7: mapping of critical regulatory elements and identification of 34 spliceogenic variants.

Llinares-Burguet I et al.

Journal of Molecular Medicine (berlin, Germany), 2025

X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background.

Obara-Moszynska M et al.

Endokrynologia Polska, 2021

Inherited predisposition to chronic lymphocytic leukemia.

Brown JR

Expert Review of Hematology, 2008

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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."