Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.

J Med Genet · 2022 · PMC9691823 · PMID 35764379

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highly significantno p-value reported

The challenge of poor phenotyping data that prevents accurate variant interpretation The quality of phenotyping has proven highly significant in determining the accuracy of variant interpretation in this study.

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