Dissemin
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Hong Joo Kim
Taylor et al., 2021
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@misc{Taylor2021, author = {Taylor, J. P. and Kim, Hong Joo and Mohassel, Payam and Donkervoort, Sandra and Guo, Lin and O’Donovan, Kevin and Coughlin, Maura and Lornage, Xaviere and Foulds, Nicola and Hammans, Simon R. and Reghan Foley, A. and Fare, Charlotte M. and Foley, A. R. and Ford, Alice F. and Ogasawara, Masashi and Sato, Aki and Iida, Aritoshi and Munot, Pinki and Ambegaonkar, Gautam and Phadke, Rahul and O’Donovan, Dominic G. and Buchert, Rebecca and Grimmel, Mona and Töpf, Ana and Zaharieva, Irina T. and Brady, Lauren and Hu, Ying and Lloyd, Thomas E. and Klein, Andrea and Steinlin, Maja and Kuster, Alice and Bönnemann, Carsten G. and Mercier, Sandra and Marcorelles, Pascale and Péréon, Yann and Fleurence, Emmanuelle and Manzur, Adnan and Ennis, Sarah and Upstill-Goddard, Rosanna and Bello, Luca and Bertolin, Cinzia and Pegoraro, Elena and Salviati, Leonardo and French, Courtney E. and Lucy Raymond, F. and Shatillo, Andriy and Haack, Tobias and Raymond, F. L. and Quijano-Roy, Susana and Böhm, Johann and Nelson, Isabelle and Stojkovic, Tanya and Evangelista, Teresinha and Straub, Volker and Romero, Norma B. and Laporte, Jocelyn and Muntoni, Francesco and Nishino, Ichizo and Tarnopolsky, Mark A. and Paul Taylor, J. and Shorter, James}, month = {jan}, title = {Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy}, year = {2021} }
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Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Published in 2021 by
J. P. Taylor
,
Hong Joo Kim
,
Payam Mohassel
,
Sandra Donkervoort
,
Lin Guo
,
Kevin O’Donovan
,
Maura Coughlin
,
Xaviere Lornage
,
Nicola Foulds
,
Simon R. Hammans
,
A. Reghan Foley
,
Charlotte M. Fare
,
A. R. Foley
,
Alice F. Ford
,
Masashi Ogasawara
and
other authors.
J. P. Taylor
,
Hong Joo Kim
,
Payam Mohassel
,
Sandra Donkervoort
,
Lin Guo
,
Kevin O’Donovan
,
Maura Coughlin
,
Xaviere Lornage
,
Nicola Foulds
,
Simon R. Hammans
,
A. Reghan Foley
,
Charlotte M. Fare
,
A. R. Foley
,
Alice F. Ford
,
Masashi Ogasawara
,
Aki Sato
,
Aritoshi Iida
,
Pinki Munot
,
Gautam Ambegaonkar
,
Rahul Phadke
,
Dominic G. O’Donovan
,
Rebecca Buchert
,
Mona Grimmel
,
Ana Töpf
,
Irina T. Zaharieva
,
Lauren Brady
,
Ying Hu
,
Thomas E. Lloyd
,
Andrea Klein
,
Maja Steinlin
,
Alice Kuster
,
Carsten G. Bönnemann
,
Sandra Mercier
,
Pascale Marcorelles
,
Yann Péréon
,
Emmanuelle Fleurence
,
Adnan Manzur
,
Sarah Ennis
,
Rosanna Upstill-Goddard
,
Luca Bello
,
Cinzia Bertolin
,
Elena Pegoraro
,
Leonardo Salviati
,
Courtney E. French
,
F. Lucy Raymond
,
Andriy Shatillo
,
Tobias Haack
,
F. L. Raymond
,
Susana Quijano-Roy
,
Johann Böhm
,
Isabelle Nelson
,
Tanya Stojkovic
,
Teresinha Evangelista
,
Volker Straub
,
Norma B. Romero
,
Jocelyn Laporte
,
Francesco Muntoni
,
Ichizo Nishino
,
Mark A. Tarnopolsky
,
J. Paul Taylor
,
James Shorter
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