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Page 1
Common- and rare-variant genetic architecture of heart failure across the allele frequency spectrum.
Lee DSM, Cardone KM, Zhang DY, Abramowitz S, DePaolo JS, Aragam KG, Biddinger K, Conery M, Dilitikas O, Hoffman-Andrews L, Judy RL, Khan A, Kulo I, Puckelwartz MJ, Reza N, Satterfield BA, Singhal P; Regeneron Genetics Center; Arany ZP, Cappola TP, Carruth E, Day SM, Do R, Haggarty CM, Joseph J, McNally E, Nadkarni G, Owens AT, Rader DJ, Ritchie MD, Sun Y, Voight BF, Levin MG, Damrauer SM. Lee DSM, et al. Among authors: depaolo js. medRxiv [Preprint]. 2023 Oct 2:2023.07.16.23292724. doi: 10.1101/2023.07.16.23292724. medRxiv. 2023. PMID: 37503172 Free PMC article. Preprint.
A mutation in SCARB2 is a modifier in Gaucher disease.
Velayati A, DePaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E. Velayati A, et al. Among authors: depaolo j. Hum Mutat. 2011 Nov;32(11):1232-8. doi: 10.1002/humu.21566. Epub 2011 Sep 15. Hum Mutat. 2011. PMID: 21796727 Free PMC article.
22 results