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Article

Genetic variant interpretation: a primer for clinicians.

Internal medicine journal - 1 Sept 2021

Kaushik Varun, Plazzer John-Paul, Winship Ingrid, Macrae Finlay

Abstract excerpt

Clinicians beyond specialist genetic services are now able to order tests to interrogate the genetic basis of disease. Behind every genetic report lies a significant body of work that draws on decades of collaboration between clinicians, researchers and database curators. Understanding these advances in genetic variant interpretation may allow practising clinicians to develop a more nuanced appreciation of the...

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PMID: 34541770
DOI: 10.1111/imj.15485

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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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