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Springer Nature [academic journals on nature.com], European Journal of Human Genetics, 2(25), p. 262-266, 2016

DOI: 10.1038/ejhg.2016.144

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Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

Journal article published in 2016 by Matthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, Britt-Sabina Petersen ORCID, Ulrike Weber, Wolfgang M. Schmidt, Johannes Zschocke ORCID, Thomas Müller, Reginald E. Bittner, Andreas R. Janecke ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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