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Article

Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM.

American journal of medical genetics. Part A - 1 Dec 2020

Schröder Simone, Wieland Britta, Ohlenbusch Andreas, Yigit Gökhan, Altmüller Janine, Boltshauser Eugen, Dörk Thilo, Brockmann Knut

Abstract excerpt

Mild clinical phenotypes of ataxia-telangiectasia (variant A-T) are associated with biallelic ATM variants resulting in residual function of the ATM kinase. At least one regulatory, missense, or leaky splice site mutation resulting in expression of ATM with low level kinase activity was identified in subjects with variant A-T. Studies on the pathogenicity of the germline splicing ATM variant c.1066-6T>G have...

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Identifiers

PMID: 32918381
DOI: 10.1002/ajmg.a.61870

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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