Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease
在制定冯·希佩尔-林道综合征 (VHL) 的 ACMG/AMP 规范中采用多平台管理
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doi:10.1101/2025.08.25.25334371
Ritter, D I; Badduke, C; Doonanco, K; Kang, H C; Pesaran, T; Ridd, S; Sheen, C; Farncombe, K M; Giles, R H; Luo, M; Pipko, N; Tsoi, C T; McGoldrick, K; Mighton, C; Abu Kashabeh, R H; Sanabria-Salas, M C; Talab, Y; Deka, K B; Jacobs, M F; Tuzlali, E; Gallinger, B; Griffith, M; Krysiak, K; Machado, J; Maher, E R; Tirosh, A; Kim, R H