Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel
Jennifer Goldstein(University of North Carolina at Chapel Hill), Catherine Rehder(Duke University), Taraka Donti(Baylor College of Medicine), Shelly Goomber(Duke University Health System), Brett Deml, Yinghong Pan(Guangdong University of Technology), Lianna Kyriakopoulou(University of Toronto), Raquel Fernández(American College of Medical Genetics), Rupa Udani(University of Wisconsin System), Rachel G. Son, Filippo Pinto e Vairo(Mayo Clinic), Robert D. Steiner(University of Wisconsin–Madison), Lynne S. Rosenblum(LabCorp (United States)), Jennifer McGlaughon(Invitae (United States)), Heather Baudet(University of North Carolina at Chapel Hill), Deeksha Bali(MRC Epidemiology Unit), Courtney Thaxton(University of North Carolina at Chapel Hill), Bryce A. Seifert(National Institute of Allergy and Infectious Diseases), Dona Kanavy(Duke University Health System), Yang Wang(Hubei University of Technology), Michele Caggana(New York State Department of Health), Meredith Weaver(American College of Medical Genetics), Michael S. Watson(American College of Medical Genetics), Christina Hung(Boston Children's Hospital), Liz Kearns(Dana-Farber Cancer Institute), L. Clarke(University of British Columbia)
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