학술논문
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
Document Type
Article
Author
Boer, Elke de; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Gao, Fei; Gilissen, Christian; Horvath, Rita; Johari, Mridul; Johanson, Lennart; Li, Shuang; Matalonga, Leslie; Morsy, Heba; Nelson, Isabelle; Paramonov, Ida; Paske, Iris B.A.W. te; Robinson, Peter; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; Trimouille, Aurélien; van der Velde, Joeri K.; Vandrovcova, Jana; Vitobello, Antonio; Zurek, Birte; Abbot, Kristin M.; Banka, Siddharth; Benetti, Elisa; de Boer, Elke; Casari, Giorgio; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Ellwanger, Kornelia; Faivre, Laurence; Graessner, Holm; Haack, Tobias B.; Hammarsjö, Anna; Havlovicova, Marketa; Hoischen, Alexander; Hugon, Anne; Jackson, Adam; Kerstjens, Mieke; Kleefstra, Tjitske; Lindstrand, Anna; Martín, Estrella López; Macek, Milan, Jr.; Maystadt, Isabelle; Morleo, Manuela; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca C.; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Santen, Gijs W.E.; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Verloes, Alain; Vissers, Lisenka; Votypka, Pavel; Vyshka, Klea; Zguro, Kristina; Yaldiz, Burcu; Laurie, Steve; de Reuver, Rick; Kwint, Michael; Pfundt, Rolph; Willemsen, Michèl A.A.P.; Vries, Bert B.A. de; Vitobello, A.; Vissers, Lisenka E.L.M.
Source
In European Journal of Medical Genetics January 2022 65(1)
Subject
Language
ISSN
1769-7212