Reference table (All references)



References
Year
PubMed Id
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2006
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2002
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2013
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2011
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2016
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2018
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2019
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1988
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2018
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2011
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2019
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1995
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2008
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2013
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2018
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2018
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1993
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2002
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2020
Gerull, B.; Gramlich, M.; Atherton, J.; McNabb, M.; Trombitas, K.; Sasse-Klaassen, S.; Seidman, J. G.; Seidman, C.; Granzier, H.; Labeit, S.; Frenneaux, M.; Thierfelder, L. : Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nature Genet. 30: 201-204, 2002.
2002
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2004
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2014
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2012
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1992
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1991
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1990
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1993
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2011
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2016
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2005
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2007
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2006
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2009
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1998
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2006
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1996
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2014
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2016
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2002
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2003
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2017
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2013
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2013
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2014
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2013
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2007
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1995
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2011
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1995
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2010
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2012
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2007
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2007
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2003
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1999
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2004
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2007
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2009
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2007
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2009
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2011
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2009
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2012
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2010
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1982
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2015
Gundesli, H., Talim, B., Korkusuz, P., Balci-Hayta, B., Cirak, S., Akarsu, N. A., Topaloglu, H., Dincer, P. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am. J. Hum. Genet. 87: 834-841, 2010.
2010
Gupta, V. A., Ravenscroft, G., Shaheen, R., Todd, E. J., Swanson, L. C., Shiina, M., Ogata, K., Hsu, C., Clarke, N. F., Darras, B. T., Farrar, M. A., Hashem, A., and 18 others. Identification of KLHL41 mutations implicates BTB-kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy. Am. J. Hum. Genet. 93: 1108-1117, 2013.
2013
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2018
Gurnett, C. A., Desruisseau, D. M., McCall, K., Choi, R., Meyer, Z. I., Talerico, M., Miller, S. E., Ju, J.-S., Pestronk, A., Connolly, A. M., Druley, T. E., Weihl, C. C., Dobbs, M. B. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum. Molec. Genet. 19: 1165-1173, 2010.
2010