Author,Title,Journal,ISSN,Publisher,Date,Volume,Number,Page,URL,URL(DOI)
Sofia Douzgou and Joel Charrow and Norine Voisin and Crystle Lee and Anna Mikhaleva and Stefan Mundlos and Julien Delafontaine and Kristian Tveten and Jane Juusola and Toshiki Takenouchi and Rhonda E. Schnur and Tomoko Uehara and Boris Keren and Alexander Lavrov and Elin Tønne and Sinje Geuer and Victoria R. Sanders and Else Merckoll and Natasha J Brown and E. Martina Bebin and Wendy K. Chung and Dian Donnai and David Kronn and Ganka Douglas and Nicolas Guex and Dawn L. Earl and Giuliana Giannuzzi and Susan M. Hiatt and Olga Levchenko and Giuseppina Vitiello and Alexandre Reymond and David J. Amor and Kenjiro Kosaki and Heidi Taska-Tench and Anna C.E. Hurst and Akemi J. Tanaka and Binnaz Yalcin and Nicola Brunetti-Pierri and Gerarda Cappuccio and Elena L. Dadali and Tara Funari and Caroline Nava and Cecilie F. Rustad and Fabio Sirchia and Nicolas Chatron and Jennifer Norman and Øystein L. Holla and Ennio Del Giudice and Alfredo Brusco and Delphine Héron and Sylvain Pradervand and Gregory M. Cooper,"Variants in the degron of<i>AFF3</i>cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy",,,Cold Spring Harbor Laboratory,2019-07-17,,,,https://cir.nii.ac.jp/crid/1870865117868417408,https://doi.org/10.1101/693937