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Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation
Baumann, Matthias, Steichen-Gersdorf, Elisabeth, Krabichler, Birgit, Petersen, Britt-Sabina, Weber, Ulrike, Schmidt, Wolfgang M, Zschocke, Johannes, Müller, Thomas, Bittner, Reginald E, Janecke, AndreLanguage:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2016.144
Date:
October, 2016
File:
PDF, 1.01 MB
english, 2016