Mono- and biallelic variant effects on disease at biobank scale.

Nature · 2023 · PMC9849130 · PMID 36653560

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nominally significantno p-value reported

Thus, in total, only 13 out of 31 variants were suitable for validation in the UKBB, 8 of which had nominally significant recessive associations to related phenotypes in the UKBB (Extended Data Fig. 5 and Supplementary Tables 6 and 7 ).

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