Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism.

Nat Commun · 2021 · PMC7878905 · PMID 33574263

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highly significantno p-value reported

The highly significant association ( p -SKAT = 1e–24, p -burden = 1e–29) supported the use of UK Biobank data, and we subsequently investigated the aggregate effect of rare variants in the UK Biobank on 791 binary disease outcomes (Methods).

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