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Article

The "New Genetics" in Clinical Practice: A Brief Primer.

Journal of the American Board of Family Medicine : JABFM - 1 Jan 2000

Milunsky Aubrey

Abstract excerpt

Major advances in human genetics have led to the identification of 4451 genes to date with disease-carrying mutations, thereby enabling precise diagnoses of all of these monogenic disorders. Limitations to the use of the "new genetics" do exist, however, including the recognition of genetic heterogeneity, many variants of unknown significance, and incidental diagnoses. This article reviews information to help use...

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PMID: 28484071
DOI: 10.3122/jabfm.2017.03.160316

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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