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Exome reanalysis and proteomic profiling identified TRIP4 a..:
Töpf, Ana
;
Pyle, Angela
;
Griffin, Helen
...
European Journal of Human Genetics. 29 (2021) 9 - p. 1348-1353 , 2021
Link:
https://doi.org/10.1038/s41431-021-00851-8
RT Journal T1
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41431-021-00851-8&Exemplar=1&LAN=DE A1 Töpf, Ana A1 Pyle, Angela A1 Griffin, Helen A1 Matalonga, Leslie A1 Schon, Katherine A1 Cohen, Enzo A1 Cuesta, Isabel A1 Danis, Daniel A1 Denommé-Pichon, Anne-Sophie A1 Duffourd, Yannis A1 Gilissen, Christian A1 Johari, Mridul A1 Laurie, Steven A1 Li, Shuang A1 Nelson, Isabelle A1 Paramonov, Ida A1 Peters, Sophia A1 Prasanth, Sivakumar A1 Robinson, Peter A1 Sablauskas, Karolis A1 Savarese, Marco A1 Steyaert, Wouter A1 van der Velde, Joeri K. A1 Vitobello, Antonio A1 Baets, Jonathan A1 Beijer, Danique A1 Bonne, Gisèle A1 Cossins, Judith A1 Evangelista, Teresinha A1 Ferlini, Alessandra PB Springer Science and Business Media LLC YR 2021 SN 1018-4813 SN 1476-5438 JF European Journal of Human Genetics VO 29 IS 9 SP 1348 OP 1353 LK http://dx.doi.org/https://doi.org/10.1038/s41431-021-00851-8 DO https://doi.org/10.1038/s41431-021-00851-8 SF ELIB - SuUB Bremen
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