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1 Ergebnisse
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Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:
Hong Joo Kim
;
Payam Mohassel
;
Sandra Donkervoort
...
https://doi.org/10.1038/s41467-022-30015-1. , 2022
Link:
https://doi.org/10.1038/s41467-022-30015-1
RT Journal T1
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:43f9513e8b2941959cf7d7957b2785b1&Exemplar=1&LAN=DE A1 Hong Joo Kim A1 Payam Mohassel A1 Sandra Donkervoort A1 Lin Guo A1 Kevin O'Donovan A1 Maura Coughlin A1 Xaviere Lornage A1 Nicola Foulds A1 Simon R. Hammans A1 A. Reghan Foley A1 Charlotte M. Fare A1 Alice F. Ford A1 Masashi Ogasawara A1 Aki Sato A1 Aritoshi Iida A1 Pinki Munot A1 Gautam Ambegaonkar A1 Rahul Phadke A1 Dominic G. O'Donovan A1 Rebecca Buchert A1 Mona Grimmel A1 Ana Töpf A1 Irina T. Zaharieva A1 Lauren Brady A1 Ying Hu A1 Thomas E. Lloyd A1 Andrea Klein A1 Maja Steinlin A1 Alice Kuster A1 Sandra Mercier A1 Pascale Marcorelles A1 Yann Péréon A1 Emmanuelle Fleurence A1 Adnan Manzur A1 Sarah Ennis A1 Rosanna Upstill-Goddard A1 Luca Bello A1 Cinzia Bertolin A1 Elena Pegoraro A1 Leonardo Salviati A1 Courtney E. French A1 Andriy Shatillo A1 F. Lucy Raymond A1 Tobias B. Haack A1 Susana Quijano-Roy A1 Johann Böhm A1 Isabelle Nelson A1 Tanya Stojkovic A1 Teresinha Evangelista A1 Volker Straub A1 Norma B. Romero A1 Jocelyn Laporte A1 Francesco Muntoni A1 Ichizo Nishino A1 Mark A. Tarnopolsky A1 James Shorter A1 Carsten G. Bönnemann A1 J. Paul Taylor PB Nature Portfolio YR 2022 K1 Science K1 Q JF https://doi.org/10.1038/s41467-022-30015-1 LK http://dx.doi.org/https://doi.org/10.1038/s41467-022-30015-1 DO https://doi.org/10.1038/s41467-022-30015-1 SF ELIB - SuUB Bremen
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