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1 Ergebnisse
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RecurrentTTNmetatranscript‐only c.39974–11T>G splice varian..:
Bryen, Samantha J.
;
Ewans, Lisa J.
;
Pinner, Jason
...
Human Mutation. 41 (2019) 2 - p. 403-411 , 2019
Link:
https://doi.org/10.1002/humu.23938
RT Journal T1
RecurrentTTNmetatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_humu.23938&Exemplar=1&LAN=DE A1 Bryen, Samantha J. A1 Ewans, Lisa J. A1 Pinner, Jason A1 MacLennan, Suzanna C. A1 Donkervoort, Sandra A1 Castro, Diana A1 Töpf, Ana A1 O'Grady, Gina A1 Cummings, Beryl A1 Chao, Katherine R. A1 Weisburd, Ben A1 Francioli, Laurent A1 Faiz, Fathimath A1 Bournazos, Adam M. A1 Hu, Ying A1 Grosmann, Carla A1 Malicki, Denise M. A1 Doyle, Helen A1 Witting, Nanna A1 Vissing, John A1 Claeys, Kristl G. A1 Urankar, Kathryn A1 Beleza‐Meireles, Ana A1 Baptista, Julia A1 Ellard, Sian A1 Savarese, Marco A1 Johari, Mridul A1 Vihola, Anna A1 Udd, Bjarne A1 Majumdar, Anirban PB Hindawi Limited YR 2019 SN 1059-7794 SN 1098-1004 JF Human Mutation VO 41 IS 2 SP 403 OP 411 LK http://dx.doi.org/https://doi.org/10.1002/humu.23938 DO https://doi.org/10.1002/humu.23938 SF ELIB - SuUB Bremen
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