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Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (2.7%), suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance. De novo protein truncating variants (PTVs) have been shown to be enriched among the 10% of ‘syndromic’ patients with extra cardiac manifestations. We exome sequenced 1,891 probands, including both syndromic CHD (S CHD, n = 610) and nonsyndromic CHD (NS CHD, n = 1,281).
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The most evident are in the town of Vitoria Gasteiz, or just Vitoria, the capital of Spain’s Basque Autonomous Community, about 60 kilometres southeast of Bilbao. The Jewish population here was the largest in the Basque region: 300 in 1290 and 900 on the eve of the expulsion in 1492. They included physicians, tradesmen, farmers and tax collectors..
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My friend Lizzie and I set out in the rain for South Central this morning and I don think either of us really knew just how incredible the Watts Towers would be. The whole scene is madness the result of three decades of an eccentric tinkering in his back yard. Sabato Rodia was an Italian immigrant who measured 4 and built all of this by hand starting in the 1920s 17 structures constructed of steel and mortar, and covered in broken glass bottles, cracked ceramic plates, sea shells and tiles..
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