Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing
将 ABCD1 变异作为外显子组和基因组测序中可操作的次要发现进行报告
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2025.101425
Dominguez Gonzalez, Carlos A; Spinner, Nancy B; Ahrens-Nicklas, Rebecca C; Young, Lisa R; Voss, Laura A; Reichert, Sara L; Gallo, Daniel J; Cohen, Julie S; Bonkowsky, Joshua L; Keller, Stephanie R; Bennett, Mariko L; Pizzino, Amy M; Swantkowski, Meghan; Arnold, Kaley; Fraser, Jamie L; Emerson, Felicity J; Miettunen, Kelly; Fatemi, Ali; Van Haren, Keith P; Adang, Laura; Waldman, Amy; Emrick, Lisa; Eichler, Florian; Vanderver, Adeline