Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.T1885delFs
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ATM

NM_000051.4:p.T1885delFs

Associated Papers

Accelerated replicative senescence of ataxia-telangiectasia skin fibroblasts is retained at physiologic oxygen levels, with unique and common transcriptional patterns.

Haj M et al.

Aging Cell, 2023

37254625 (PubMed )
Supplement: ACEL-22-e13869-s002.docx

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Moeini Shad T et al.

Frontiers in Immunology, 2021

Ataxia telangiectasia: more variation at clinical and cellular levels.

Taylor AM et al.

Clinical Genetics, 2015

Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.

Worth PF et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.

Alterman N et al.

American Journal of Medical Genetics. Part A, 2007

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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."