| 1 | FAVD1, NOTCH1
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| NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.
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| McBride KL, Riley MF, Zender GA, Fitzgerald-Butt SM, Towbin JA, Belmont JW, Cole SE.
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| Hum Mol Genet 17(18):2886-93. Epub 2008 Jun 30.
2008
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| 2 | FAVD1, FAVD2, HLHS1, HLHS2
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| Hypoplastic left heart syndrome is heritable.
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| Hinton RB Jr, Martin LJ, Tabangin ME, Mazwi ML, Cripe LH, Benson DW.
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| J Am Coll Cardiol 50(16):1590-5. Epub 2007 Oct 1. 2007
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| 3 | NOTCH1, FAVD1
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| Mutations in NOTCH1 cause aortic valve disease.
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| Garg V, Muth AN, Ransom JF, Schluterman MK, Barnes R, King IN, Grossfeld PD, Srivastava D.
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| Nature 437(7056):270-4. Epub 2005 Jul 17. 2005
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| 4 | FAVD1, FAVD2
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| Bicuspid aortic valve is heritable.
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| Cripe L, Andelfinger G, Martin LJ, Shooner K, Benson DW.
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| J Am Coll Cardiol 44(1):138-43. 2004
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