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NAA80 bi-allelic missense variants result in high-frequency..:
Muffels, Irena J J
;
Wiame, Elsa
;
Fuchs, Sabine A
...
boreal:256371. , 2021
Link:
http://hdl.handle.net/2078.1/256371
RT Journal T1
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay
UL https://suche.suub.uni-bremen.de/peid=base-ftunistlouisbrus:oai:dial.uclouvain.be:boreal:256371&Exemplar=1&LAN=DE A1 Muffels, Irena J J A1 Wiame, Elsa A1 Fuchs, Sabine A A1 Massink, Maarten P G A1 Rehmann, Holger A1 Musch, Jiska L I A1 Van Haaften, Gijs A1 Vertommen, Didier A1 Van Schaftingen, Emile A1 van Hasselt, Peter M YR 2021 K1 Baraitser-Winter K1 actin acetylation K1 actin dynamics K1 hearing loss K1 post-translational actin modifications JF boreal:256371 LK http://hdl.handle.net/2078.1/256371 DO http://hdl.handle.net/2078.1/256371 SF ELIB - SuUB Bremen
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