Additional file 1 of A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome
收藏Figshare2025-10-23 更新2026-04-08 收录
下载链接：
https://springernature.figshare.com/articles/dataset/Additional_file_1_of_A_quantitative_Bayesian-informed_approach_to_gene-specific_variant_classification_Updated_Expert_Panel_recommendations_improve_classification_of_TP53_germline_variants_for_Li-Fraumeni_syndrome/30423612/1
下载链接
链接失效反馈官方服务：
资源简介：
Additional file 1: Table S1. SpliceAI predictions and experimental splice data used to inform strengths for GT-AG +/-1,2 dinucleotide splice site variants in the TP53 VCEP Specifications v2 (.xls).
提供机构：
James, Paul A.; de la Hoya, Miguel; Mester, Jessica; Crowley, Stephanie; Bustamante, Carolina; Maxwell, Kara; Kratz, Christian P.; Pinto, Emilia Modolo; Schwartz-Levine, Alison; MacFarland, Suzanne P.; Harrell, Maria Isabel; Thompson, Ashley S.; Murphy, Maureen; Plon, Sharon E.; Penkert, Judith; Zelley, Kristin; Bassett, Rebecca; Kesserwan, Chimene; Lee, Kristy; Fortuno, Cristina; Fuqua, Laura; Mai, Phuong L.; Achatz, Maria Isabel; Zambetti, Gerard P.; de Andrade, Kelvin Cesar; Spurdle, Amanda B.; Frone, Megan N.; Hatton, Jessica N.; Feng, Bingjian; Savage, Sharon A.; Evans, D. Gareth; Maciaszek, Jamie L.; Huether, Robert; Pesaran, Tina; Nehoray, Bita; Wang, Wenyi; McGoldrick, Kelly
创建时间：
2025-10-23
