 | | VARIANT: 1908v1 | |
| Entry |
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| Name |
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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 |
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| Reference |
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| Authors |
Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C, Munnich A, Lyonnet S |
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| Title |
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). |
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| Journal |
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| Reference |
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| Authors |
Bidaud C, Salomon R, Van Camp G, Pelet A, Attie T, Eng C, Bonduelle M, Amiel J, Nihoul-Fekete C, Willems PJ, Munnich A, Lyonnet S |
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| Title |
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. |
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| Journal |
Eur J Hum Genet 5:247-51 (1997) |
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| LinkDB |
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