reference/19587697

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publicationName	American journal of medical genetics. Part A
startingPage	2240
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bibliographicCitation	Maselli RA, Arredondo J, Vázquez J, Chong JX; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. Am J Med Genet A. 2017 Aug;173(8):2240–5. PMID: 28544784; PMCID: PMC5541137.
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language	English
source	https://www.crossref.org/ https://pubmed.ncbi.nlm.nih.gov/
title	Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission
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