Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis
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DOI: 10.1038/s41467-022-31030-y
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- Michiel Vanneste & Hanne Hoskens & Seppe Goovaerts & Harold Matthews & Jay Devine & Jose D. Aponte & Joanne Cole & Mark Shriver & Mary L. Marazita & Seth M. Weinberg & Susan Walsh & Stephen Richmond &, 2024. "Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population," Nature Communications, Nature, vol. 15(1), pages 1-13, December.
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