| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
ERCC6 DNA excision repair protein ERCC-6 isoform 2 [KO: K10841]
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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 |
| H02570 | Cerebro-oculo-facio-skeletal syndrome |
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| Reference |
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| Authors |
Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR |
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| Title |
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. |
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| Journal |
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| Reference |
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| Authors |
Jaakkola E, Mustonen A, Olsen P, Miettinen S, Savuoja T, Raams A, Jaspers NG, Shao H, Wu BL, Ignatius J |
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| Title |
ERCC6 founder mutation identified in Finnish patients with COFS syndrome. |
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| Journal |
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| LinkDB |
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