- Title
-
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
- Authors
- Ferreira, C.R., Xia, Z.J., Clément, A., Parry, D.A., Davids, M., Taylan, F., Sharma, P., Turgeon, C.T., Blanco-Sánchez, B., Ng, B.G., Logan, C.V., Wolfe, L.A., Solomon, B.D., Cho, M.T., Douglas, G., Carvalho, D.R., Bratke, H., Haug, M.G., Phillips, J.B., Wegner, J., Tiemeyer, M., Aoki, K., Undiagnosed Diseases Network, Scottish Genome Partnership, Nordgren, A., Hammarsjö, A., Duker, A.L., Rohena, L., Hove, H.B., Ek, J., Adams, D., Tifft, C.J., Onyekweli, T., Weixel, T., Macnamara, E., Radtke, K., Powis, Z., Earl, D., Gabriel, M., Russi, A.H.S., Brick, L., Kozenko, M., Tham, E., Raymond, K.M., Phillips, J.A., Tiller, G.E., Wilson, W.G., Hamid, R., Malicdan, M.C.V., Nishimura, G., Grigelioniene, G., Jackson, A., Westerfield, M., Bober, M.B., Gahl, W.A., Freeze, H.H.
- Source
- Full text @ Am. J. Hum. Genet.
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ZFIN is incorporating published figure images and captions as part of an ongoing project. Figures from some publications have not yet been curated, or are not available for display because of copyright restrictions. |
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ZFIN is incorporating published figure images and captions as part of an ongoing project. Figures from some publications have not yet been curated, or are not available for display because of copyright restrictions. PHENOTYPE:
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ZFIN is incorporating published figure images and captions as part of an ongoing project. Figures from some publications have not yet been curated, or are not available for display because of copyright restrictions. PHENOTYPE:
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ZFIN is incorporating published figure images and captions as part of an ongoing project. Figures from some publications have not yet been curated, or are not available for display because of copyright restrictions. EXPRESSION / LABELING:
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ZFIN is incorporating published figure images and captions as part of an ongoing project. Figures from some publications have not yet been curated, or are not available for display because of copyright restrictions. |
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