PIGG variant pathogenicity assessment reveals novel features within nineteen families
Camille Tremblay-Laganiere,Reza Maroofian, Thi T. M. Nguyen,Ehsan Ghayoor Karimiani,Salman Kirmani,Fizza Akbar,Shahnaz Ibrahim,Bushra Afroze,Mohammad Doosti,Farah Ashrafzadeh,Meisam Babaei,Stephanie Efthymiou,Tipu Sultan,Roger L. Ladda,Heather M. McLaughlin,Rebecca Truty,Sonal Mahida,Julie S. Cohen,Kristin Baranano,Fatima Y. Ismail,Millan S. Patel,Anna Lehman,Andrew C. Edmondson,Amanda Nagy,Melissa A. Walker,Saadet Mercimek-Andrews,Yuta Maki,Rani Sachdev,Rebecca Macintosh,Elizabeth E. Palmer,Grazia M. S. Mancini,Tahsin S. Barakat,Robert Steinfeld,Christina T. Rusch,Georg M. Stettner,Matias Wagner,Saskia B. Wortmann,Usha Kini,Angela F. Brady,Karen L. Stals,Naila Ismayilova,Sian Ellard,Danilo Bernardo,Kimberly Nugent,Scott D. McLean,Stylianos E. Antonarakis,Henry Houlden,Taroh Kinoshita,Philippe M. Campeau,Yoshiko Murakami EUROPEAN JOURNAL OF HUMAN GENETICS(2022)
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