Protein-altering variants at copy number-variable regions influence diverse human phenotypes
Hujoel MLA, Handsaker RE, Sherman MA, Kamitaki N, Barton AR, Mukamel RE, Terao C, McCarroll SA, Loh PR. Nat Genet. 2024 Apr;56(4):569-578. doi: 10.1038/s41588-024-01684-z. Epub 2024 Mar 28. PMID: 38548989; PMCID: PMC11018521.
