 | | VARIANT: 4638v1 | |
Entry |
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Name |
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Type |
Loss of function
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Gene |
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Organism |
hsa_var Human gene variants (Homo sapiens)
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Variation |
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Network |
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Disease |
H00801 | Familial thoracic aortic aneurysm and dissection |
H01869 | Megacystis microcolon intestinal hypoperistalsis syndrome |
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Reference |
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Authors |
Wang L, Guo DC, Cao J, Gong L, Kamm KE, Regalado E, Li L, Shete S, He WQ, Zhu MS, Offermanns S, Gilchrist D, Elefteriades J, Stull JT, Milewicz DM |
Title |
Mutations in myosin light chain kinase cause familial aortic dissections. |
Journal |
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Reference |
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Authors |
Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM |
Title |
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. |
Journal |
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LinkDB |
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