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The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
Hoorntje ET, van Spaendonck-Zwarts KY, Te Rijdt WP, Boven L, Vink A, van der Smagt JJ, Asselbergs FW, van Wijngaarden J, Hennekam EA, Pinto YM, Lekanne Deprez RH, Barge-Schaapveld DQCM, Bootsma M, Regieli J, Hoedemaekers YM, Jongbloed JDH, van den Berg MP, van Tintelen JP. Hoorntje ET, et al. Among authors: regieli j. Eur J Heart Fail. 2018 Apr;20(4):803-806. doi: 10.1002/ejhf.1030. Epub 2017 Oct 23. Eur J Heart Fail. 2018. PMID: 29057560 Free PMC article. No abstract available.
Deciduous Teeth as an Alternative DNA Source for Postmortem Genetic Testing.
Te Rijdt WP, Mieremet RHP, Kraaijenbrink T, Regieli JJ, Lemmink HH, Jan SZ, de Knijff P, Hoedemaekers YM. Te Rijdt WP, et al. Among authors: regieli jj. Circ Genom Precis Med. 2020 Apr;13(2):e002674. doi: 10.1161/CIRCGEN.119.002674. Epub 2020 Jan 31. Circ Genom Precis Med. 2020. PMID: 32003586 No abstract available.
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