دورية أكاديمية

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

التفاصيل البيبلوغرافية
العنوان: PIGG variant pathogenicity assessment reveals characteristic features within 19 families
المؤلفون: Tremblay-Laganière, Camille, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Karimiani, Ehsan GhayoorAff3, Aff4, 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.Aff11, Aff12, Baranano, KristinAff11, Aff12, Ismail, Fatima Y.Aff12, Aff13, Patel, Millan S., Lehman, Anna, Edmondson, Andrew C., Nagy, Amanda, Walker, Melissa A., Mercimek-Andrews, SaadetAff17, Aff18, Maki, YutaAff19, Aff20, Sachdev, RaniAff21, Aff22, Macintosh, Rebecca, Palmer, Elizabeth E.Aff21, Aff22, Mancini, Grazia M. S., Barakat, Tahsin Stefan, Steinfeld, Robert, Rüsch, Christina T., Stettner, Georg M., Wagner, MatiasAff25, Aff26, Wortmann, Saskia B.Aff27, Aff28, Kini, Usha, Brady, Angela F., Stals, Karen L., Ismayilova, Naila, Ellard, SianAff31, Aff33, Bernardo, Danilo, Nugent, Kimberly, McLean, Scott D., Antonarakis, Stylianos E., Houlden, Henry, Kinoshita, TarohAff37, Aff38, Campeau, Philippe M.Aff1, Murakami, YoshikoAff37, Aff38
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(10):1873-1881
قاعدة البيانات: Springer Nature Journals
الوصف
تدمد:10983600
15300366
DOI:10.1038/s41436-021-01215-9