International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias
国际卟啉症分子诊断协作组：一个基于证据的卟啉症致病性和良性变异的已验证数据库
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-019-0537-7
Chen, Brenden; Whatley, Sharon; Badminton, Michael; Aarsand, Aasne K; Anderson, Karl E; Bissell, D Montgomery; Bonkovsky, Herbert L; Cappellini, Maria D; Floderus, Ylva; Friesema, Edith C H; Gouya, Laurent; Harper, Pauline; Kauppinen, Raili; Loskove, Yonina; Martásek, Pavel; Phillips, John D; Puy, Hervé; Sandberg, Sverre; Schmitt, Caroline; To-Figueras, Jordi; Weiss, Yedidyah; Yasuda, Makiko; Deybach, Jean-Charles; Desnick, Robert J
