Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency
CCDC201基因中终止密码子突变的纯合子会导致原发性卵巢功能不全。
期刊:Nature Genetics
影响因子:29
doi:10.1038/s41588-024-01885-6
Oddsson, Asmundur; Steinthorsdottir, Valgerdur; Oskarsson, Gudjon R; Styrkarsdottir, Unnur; Moore, Kristjan H S; Isberg, Salvor; Halldorsson, Gisli H; Sveinbjornsson, Gardar; Westergaard, David; Nielsen, Henriette Svarre; Fridriksdottir, Run; Jensson, Brynjar O; Arnadottir, Gudny A; Jonsson, Hakon; Sturluson, Arni; Snaebjarnarson, Audunn S; Andreassen, Ole A; Walters, G Bragi; Nyegaard, Mette; Erikstrup, Christian; Steingrimsdottir, Thora; Lie, Rolv T; Melsted, Pall; Jonsdottir, Ingileif; Halldorsson, Bjarni V; Thorleifsson, Gudmar; Saemundsdottir, Jona; Magnusson, Olafur Th; Banasik, Karina; Sorensen, Erik; Masson, Gisli; Pedersen, Ole Birger; Tryggvadottir, Laufey; Haavik, Jan; Ostrowski, Sisse Rye; Stefansson, Hreinn; Holm, Hilma; Rafnar, Thorunn; Gudbjartsson, Daniel F; Sulem, Patrick; Stefansson, Kari
