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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1998 2
1999 2
2000 1
2002 2
2003 2
2004 4
2005 1
2007 1
2008 1
2010 1
2011 2
2012 2
2013 2
2014 3
2015 1
2016 2
2017 3
2018 2
2020 3
2021 0
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PubMed Links for id: 8292

33 results
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Page 1
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Laforgia N, De Cosmo L, Palumbo O, Ranieri C, Sesta M, Capodiferro D, Pantaleo A, Iapicca P, Lastella P, Capozza M, Schettini F, Bukvic N, Bagnulo R, Resta N. Laforgia N, et al. Genes (Basel). 2020 Dec 18;11(12):1519. doi: 10.3390/genes11121519. Genes (Basel). 2020. PMID: 33353066 Free PMC article.
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