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Recurrent TTN metatranscript-only c.39974-11T>G splice vari..:
Bryen, S. J
;
Ewans, L. J
;
Pinner, J
...
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660661/. , 2021
Link:
https://doi.org/10.1002/humu.23938
RT Journal T1
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
UL https://suche.suub.uni-bremen.de/peid=base-ftrde:oai:rde.dspace-express.com:11287_621948&Exemplar=1&LAN=DE A1 Bryen, S. J A1 Ewans, L. J A1 Pinner, J A1 MacLennan, S. C A1 Donkervoort, S A1 Castro, D A1 Töpf, A A1 O'Grady, G A1 Cummings, B A1 Chao, K. R A1 Weisburd, B A1 Francioli, L A1 Faiz, F A1 Bournazos, A. M A1 Hu, Y A1 Grosmann, C A1 Malicki, D. M A1 Doyle, H A1 Witting, N A1 Vissing, J A1 Claeys, K. G A1 Urankar, K A1 Beleza-Meireles, A A1 Baptista, J A1 Ellard, S A1 Savarese, M A1 Johari, M A1 Vihola, A A1 Udd, B A1 Majumdar, A A1 Straub, V A1 Bönnemann, C. G A1 MacArthur, D. G A1 Davis, M. R A1 Cooper, S. T PB Wiley YR 2021 K1 *Alternative Splicing K1 Arthrogryposis/*diagnosis/*genetics K1 Child K1 Preschool K1 Connectin/*genetics K1 Female K1 *Genes K1 Recessive K1 Genetic Association Studies K1 *Genetic Predisposition to Disease K1 Humans K1 Infant K1 Male K1 Muscular Diseases/*diagnosis/*genetics K1 Mutation K1 Pedigree K1 Phenotype K1 Radiography K1 *TTN metatranscript-only K1 *arthrogryposis K1 *congenital titinopathies K1 *intronic splice variant K1 Ltd (Australia). Frontier Genomics has not traded (as of October K1 2019). Frontier K1 Genomics Pty Ltd (Australia) has no existing financial relationships that will K1 benefit from publication of these data. The remaining co-authors do not have any K1 relationships K1 financial or otherwise K1 that may result in a perceived conflict of K1 interest JF https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660661/ 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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