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Article

H2AX gene does not have a modifier effect on ataxia-telangiectasia phenotype.

International journal of immunogenetics - 1 Jun 2011

Mesci L, Ozdag H, Yel L, Ozgur T T, Tan C, Sanal O

Abstract excerpt

Ataxia-telangiectasia (AT) is a complex disorder characterized by progressive neurodegeneration, immunodeficiency, hypersensitivity to DNA damaging agents and cancer predisposition. Clinical heterogeneity is observed even among the affected siblings with AT. Mutations of the ataxia-telangiectasia...

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Source

Identifiers

PMID: 21199394
DOI: 10.1111/j.1744-313X.2010.00989.x

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21199394-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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