PIGG variant pathogenicity assessment reveals characteristic features within 19 families
PIGG变异致病性评估揭示了19个家族的特征。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01215-9
Tremblay-Laganière, Camille; Maroofian, Reza; Nguyen, Thi Tuyet Mai; Karimiani, Ehsan Ghayoor; Kirmani, Salman; Akbar, Fizza; Ibrahim, Shahnaz; Afroze, Bushra; Doosti, Mohammad; Ashrafzadeh, Farah; Babaei, Meisam; Efthymiou, Stephanie; Christoforou, Marilena; Sultan, Tipu; Ladda, Roger L; McLaughlin, Heather M; Truty, Rebecca; Mahida, Sonal; Cohen, Julie S; Baranano, Kristin; Ismail, Fatima Y; Patel, Millan S; Lehman, Anna; Edmondson, Andrew C; Nagy, Amanda; Walker, Melissa A; Mercimek-Andrews, Saadet; Maki, Yuta; Sachdev, Rani; Macintosh, Rebecca; Palmer, Elizabeth E; Mancini, Grazia M S; Barakat, Tahsin Stefan; Steinfeld, Robert; Rüsch, Christina T; Stettner, Georg M; Wagner, Matias; Wortmann, Saskia B; Kini, Usha; Brady, Angela F; Stals, Karen L; Ismayilova, Naila; Ellard, Sian; Bernardo, Danilo; Nugent, Kimberly; McLean, Scott D; Antonarakis, Stylianos E; Houlden, Henry; Kinoshita, Taroh; Campeau, Philippe M; Murakami, Yoshiko