Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E2257A
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ATM

NM_000051.4:p.E2257A

Associated Papers

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.

Granath K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

40326640 (PubMed )
Supplement: MDS-40-1851-s003.xlsx › Variants

Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

Laake K et al.

Human Mutation, 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."