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

Year Number of Results
2006 1
2007 3
2008 1
2009 1
2010 2
2011 3
2012 1
2013 8
2014 7
2015 4
2016 2
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2019 3
2020 5
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2022 6
2023 4
2024 0

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Page 1
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Szeri F, Miko A, Navasiolava N, Kaposi A, Verschuere S, Molnar B, Li Q, Terry SF, Boraldi F, Uitto J, van de Wetering K, Martin L, Quaglino D, Vanakker OM, Tory K, Aranyi T. Szeri F, et al. Among authors: vanakker om. Hum Mutat. 2022 Dec;43(12):1872-1881. doi: 10.1002/humu.24498. Epub 2022 Nov 15. Hum Mutat. 2022. PMID: 36317459 Free PMC article.
Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixture of Effects Analysis.
De Vilder EYG, Martin L, Lefthériotis G, Coucke P, Van Nieuwerburgh F, Vanakker OM. De Vilder EYG, et al. Among authors: vanakker om. Front Cell Dev Biol. 2021 Jun 8;9:612581. doi: 10.3389/fcell.2021.612581. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34169069 Free PMC article.
53 results