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Article

Neutral sequence variants and haplotypes at the 150 Kb ataxia-telangiectasia locus.

American journal of medical genetics - 10 Sept 1999

Li A, Huang Y, Swift M

Abstract excerpt

Sequence variants occur every few hundred bases in the human genome. We evaluated the relationship between disease-causing mutations and neutral sequence variants at the 150 Kb ataxia-telangiectasia (A-T) locus. Mutations at this locus cause a distinct autosomal recessive syndrome in homozygotes and predispose heterozygotes to cancer and coronary heart disease. Nine common neutral sequence variants were observed...

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PMID: 10449649

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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