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

Year Number of Results
1995 1
2006 1
2009 1
2010 5
2011 1
2012 5
2013 4
2014 3
2015 1
2019 3
2020 0
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Page 1
Autoinflammatory disease with corneal and mucosal dyskeratosis caused by a novel NLRP1 variant
Herlin T, et al. Rheumatology (Oxford) 2019. Among authors: Host C. PMID 31873740
RESULTS: Sanger sequencing revealed a novel mutation (c.175G>C, p.A59P; NM_33004.4) in the inflammasome molecule NLRP1 segregating with disease, although with incomplete penetrance, in three generations. ...
RESULTS: Sanger sequencing revealed a novel mutation (c.175G>C, p.A59P; NM_33004.4) in the inflammasome molecule NLRP1 segr …
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