Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.P1069delFs
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ATM

NM_000051.4:p.P1069delFs

Associated Papers

The natural history of ataxia-telangiectasia (A-T): A systematic review.

Petley E et al.

Plos One, 2022

35290391 (PubMed )
Supplement: pone.0264177.s005.xlsx › Country

Germline Mutations Including the Rare Pathogenic Variant c.3206delC in the ATM Gene Cause Ataxia Teleangiectasia-Associated Primary Central Nervous System Lymphoma.

Dörr JR et al.

Children (basel, Switzerland), 2021

Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature.

Amirifar P et al.

Immunological Investigations, 2020

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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."