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收藏Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework使用ClinGen临床有效性框架评估溶酶体疾病中涉及的基因
Groopman, Emily; Mohan, Shruthi; Waddell, Amber; Wilke, Matheus; Fernandez, Raquel; Weaver, Meredith; Chen, Hongjie; Liu, Hongbin; Bali, Deeksha; Baudet, Heather; Clarke, Lorne; Hung, Christina; Mao, Rong; Vairo, Filippo Pinto e; Racacho, Lemuel; Yuzyuk, Tatiana; Craigen, William J.; Goldstein, Jennifer 分享 收藏 分享 收藏 分享 收藏 Development of a scoring system to define lysosomal diseaseWilke, Matheus V.; Goldstein, Jennifer; Groopman, Emily; Mohan, Shruthi; Fernandez, Raquel; Bali, Deeksha; Clarke, Lorne A.; Hung, Christina; Mao, Rong; Chen, Hongjie; Waddell, Amber; Yuzyuk, Tatiana; Craigen, William J.; Vairo, Filippo 分享 收藏 Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel庞贝病的变异分类; ClinGen溶酶体病变异治疗专家小组的ACMG/AMP规范Goldstein, Jennifer L.; Mcglaughon, Jennifer; Kanavy, Dona; Goomber, Shelly; Pan, Yinghong; Deml, Brett; Donti, Taraka; Kearns, Liz; Seifert, Bryce A.; Schachter, Miriam; Son, Rachel G.; Thaxton, Courtney; Udani, Rupa; Bali, Deeksha; Baudet, Heather; Caggana, Michele; Hung, Christina; Kyriakopoulou, Lianna; Rosenblum, Lynne; Steiner, Robert; Pinto e Vairo, Filippo; Wang, Yang; Watson, Michael; Fernandez, Raquel; Weaver, Meredith; Clarke, Lorne; Rehder, Catherine 分享 收藏 分享 收藏 THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: APPLYING A STANDARDIZED CURATION FRAMEWORK TO ASSESS THE CLINICAL VALIDITY OF GENES FOR LYSOSOMAL DISEASEMao, Rong; Groopman, Emily; Fernandez, Raquel; Mohan, Shruthi; Stafford, Amber; Baudet, Heather; Weaver, Meredith; Clarke, Lorne; Hung, Christina; Bali, Deeksha; Pinto e Vairo, Filippo; Racacho, Lemuel; Yuzyuk, Tatiana; Craigen, William; Goldstein, Jennifer 分享 收藏 CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENESSimpson, Kara; Mew, Nicholas Ah.; Caldovic, Ljubica; Craigen, William; Feigenbaum, Annette; Fernandez, Raquel; Groopman, Emily; Gropman, Andrea; Kudalker, Emily; Kyriss, McKenna; Lichter-Konecki, Uta; Nagamani, Sandesh; Spector, Elaine; Thomas-Wilson, Amanda; Warrier, Manya; Weaver, Meredith; Zastrow, Diane 分享 收藏 The ClinGen Lysosomal Diseases Gene Curation Panel: Applying a standardized curation framework to assess the clinical validity of genes for lysosomal diseaseGroopman, Emily; Fernandez, Raquel; Mohan, Shruthi; Stafford, Amber; Weaver, Meredith; Clarke, Lorne; Hung, Christina; Mao, Rong; Bali, Deeksha; Vairo, Filippo; Yuzyuk, Tatiana; Craigen, William J.; Goldstein, Jennifer 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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