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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2002 | 1 |
2011 | 2 |
2012 | 1 |
2016 | 1 |
2017 | 2 |
2024 | 0 |
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Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.
Circulation. 2002 May 21;105(20):2337-40. doi: 10.1161/01.cir.0000018444.47798.94.
Circulation. 2002.
PMID: 12021217
Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
Caleshu C, Sakhuja R, Nussbaum RL, Schiller NB, Ursell PC, Eng C, De Marco T, McGlothlin D, Burchard EG, Rame JE.
Caleshu C, et al.
Am J Med Genet A. 2011 Sep;155A(9):2229-35. doi: 10.1002/ajmg.a.34097. Epub 2011 Aug 5.
Am J Med Genet A. 2011.
PMID: 21823217
Free PMC article.
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H.
Walsh R, et al.
Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.
Genet Med. 2017.
PMID: 27532257
Free PMC article.
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Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting.
Lossie J, Ushakov DS, Ferenczi MA, Werner S, Keller S, Haase H, Morano I.
Lossie J, et al.
Cardiovasc Res. 2012 Mar 1;93(3):390-6. doi: 10.1093/cvr/cvr320. Epub 2011 Nov 30.
Cardiovasc Res. 2012.
PMID: 22131351
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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