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Article

Global analysis of ATM polymorphism reveals significant functional constraint.

American journal of human genetics - 1 Aug 2001

Thorstenson Y R, Shen P, Tusher V G, Wayne T L, Davis R W, Chu G, Oefner P J

Abstract excerpt

ATM, the gene that is mutated in ataxia-telangiectasia, is associated with cerebellar degeneration, abnormal proliferation of small blood vessels, and cancer. These clinically important manifestations have stimulated interest in defining the sequence variation in the ATM gene. Therefore, we undertook a comprehensive survey of sequence variation in ATM in diverse human populations. The protein-encoding exons of...

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Identifiers

PMID: 11443540
DOI: 10.1086/321296
PMCID: PMC1235311

Genes

ATM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Global analysis of ATM polymorphism reveals significant functional constraint.PMID 11443540Read ↗

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Whole genome joint analysis reveals ATM:C.1564_1565del variant segregating with Ataxia-Telangiectasia and breast cancer.Semantic proximity Read ↗

Compound Heterozygous ATM Variants Cause Adolescent-Onset Cerebellar and Extrapyramidal Disease Without Telangiectasia in a Consanguineous Pakistani Family.Semantic proximity Read ↗

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