Penetrance of Mendelian Disease Variants Ranges in Heterozyg

Using exome sequence data from the UK Biobank, researchers uncovered recessive Mendelian disease-linked variants with modest effects when found in a heterozygous state.

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United States , American , , Broad Institute , Massachusetts Institute Of Technology , Harvard Medical School , United Kingdom Biobank , Massachusetts Institute , Po Ru Loh , American Journal , Medical Genetics , Online Mendelian Inheritance ,