Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder
RAPGEF2基因中罕见的杂合新生变异与神经发育障碍相关。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2026.101685
Bereshneh, Ali H; Wilson, Kirkland A; Pan, Xueyang; Hannan, Shabab B; Cooper, Megan A; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M; Azamian, Mahshid S; Scott, Daryl A; Billie Au, Ping Yee; Appendino, Juan Pablo; Scheffer, Ingrid E; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S; Morgan, Angela T; Ekure, Ekanem; Shulman, Joshua M; Hildebrandt, Friedhelm; Posey, Jennifer E; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J
