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Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.

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Title: Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
Authors: Cardone, Nastasia1 (AUTHOR), Moula, Melissa1 (AUTHOR), Baelde, Rianne J.2 (AUTHOR), Biquand, Ariane3 (AUTHOR), Villanova, Marcello4 (AUTHOR), Metay, Corinne5 (AUTHOR), Fiorillo, Chiara6 (AUTHOR), Baratto, Serena6 (AUTHOR), Merlini, Luciano7 (AUTHOR), Sabatelli, Patrizia8,9 (AUTHOR), Romero, Norma B.10 (AUTHOR), Relaix, Frederic1 (AUTHOR), Authier, François Jérôme1,11 (AUTHOR), Taglietti, Valentina1 (AUTHOR), Savarese, Marco12 (AUTHOR), de Winter, Josine2 (AUTHOR), Ottenheijm, Coen2 (AUTHOR), Richard, Isabelle3 (AUTHOR), Malfatti, Edoardo1,11 (AUTHOR) edoardo.malfatti@aphp.fr
Source: Acta Neuropathologica Communications. 3/21/2023, Vol. 11 Issue 1, p1-10. 10p.
Database: Academic Search Ultimate
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  Data: Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
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  Data: <searchLink fieldCode="JN" term="%22Acta+Neuropathologica+Communications%22">Acta Neuropathologica Communications</searchLink>. 3/21/2023, Vol. 11 Issue 1, p1-10. 10p.
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