interesting gene showing partial penetrance (Genome Web)

October 24, 2021

UK Biobank Study Investigates Incomplete Penetrance of Mendelian Disease Variants

Oct 21, 2021 | Julia Karow

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NEW YORK – Recessive Mendelian disorders are caused by mutations in both copies of a gene, but heterozygous carriers can sometimes also show mild phenotypes.

To study such incomplete penetrance of disease variants in greater detail, researchers have analyzed genetic data from the UK Biobank.