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Wiley, Human Mutation: Variation, Informatics and Disease, 9(41), p. 1600-1614, 2020

DOI: 10.1002/humu.24062

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First Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNC

Journal article published in 2020 by Heike Kölbel ORCID, Andreas Roos, Peter F. M. Ven ORCID, Teresinha Evangelista, Kay Nolte, Katherine Johnson, Ana Töpf, Michael Wilson, Wolfram Kress, Albert Sickmann, Volker Straub, Laxmikanth Kollipara, Joachim Weis ORCID, Dieter O. Fürst, Ulrike Schara
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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