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Article

Mendelian inheritance revisited: dominance and recessiveness in medical genetics.

Nature reviews. Genetics - 1 Jul 2023

Zschocke Johannes, Byers Peter H, Wilkie Andrew O M

Abstract excerpt

Understanding the consequences of genotype for phenotype (which ranges from molecule-level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many measures of the deleteriousness of individual alleles exist, but these have limitations for predicting the clinical consequences. Various mechanisms can protect the organism from the adverse effects of functional variants, especially...

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PMID: 36806206
DOI: 10.1038/s41576-023-00574-0

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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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