PIGG variant pathogenicity assessment reveals characteristic features within 19 families
Camille Tremblay-Laganière,Reza Maroofian,Thi Tuyet Mai Nguyen,Ehsan Ghayoor Karimiani,Salman Kirmani,Fizza Akbar,Shahnaz Ibrahim,Bushra Afroze,Mohammad Doosti,Farah Ashrafzadeh,Meisam Babaei,Stephanie Efthymiou,Marilena Christoforou,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 Stefan Barakat,Robert Steinfeld,Christina T. Rüsch,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 Genetics in Medicine（2021）
Key words
variant pathogenicity assessment
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