A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.

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Title :	A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.
Authors:	Perić, Stojan ; Nikodinović-Glumac, Jelena; Töpf, Ana; Savić-Pavićević, Dušanka ; Phillips, Lauren; Johnson, Katherine; Cassop-Thompson, Marcus; Xu, Liwen; Bertoli, Marta; Lek, Monkol; MacArthur, Daniel; Brkušanin, Miloš ; Milenković, Sanja ; Milić-Rašić, Vedrana ; Banko, Bojan ; Maksimović, Ružica ; Lochmüller, Hanns; Stojanović, Vidosava ; Straub, Volker;
Issue Date:	2017
Publication:	European Journal of Human Genetics
ISSN:	1018-4813 European Journal of Human Genetics Search Idenfier
Publisher:	London : Nature Publishing Group
Type:	Article
Collation:	vol. 25 br. 5 str. 572-581
DOI:	10.1038/ejhg.2017.16
WoS-ID:	000399406200010
Scopus-ID:	2-s2.0-85015187980
PMID:	28295036
PMCID:	PMC5437897
URI:	https://biore.bio.bg.ac.rs/handle/123456789/2016 https://enauka.gov.rs/handle/123456789/309688 https://stomatoloskifakultet.rs/nauka/publikacija/611
URL:	https://www.nature.com/articles/ejhg201716
Project:	Sanofi Genzyme Ultragenyx Pharmaceutical LGMD2I Research Fund Kurt+Peter Foundation LGMD2D Foundation Samantha J Brazzo Foundation Medical Research Council UK [G1002274, 98482] European Union [305444, 305121] Ministry of Education, Science and Tec
Metadata source:	Migracija
M-category:	21M21

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