- Title
-
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
- Authors
- Lardelli, R.M., Schaffer, A.E., Eggens, V.R., Zaki, M.S., Grainger, S., Sathe, S., Van Nostrand, E.L., Schlachetzki, Z., Rosti, B., Akizu, N., Scott, E., Silhavy, J.L., Heckman, L.D., Rosti, R.O., Dikoglu, E., Gregor, A., Guemez-Gamboa, A., Musaev, D., Mande, R., Widjaja, A., Shaw, T.L., Markmiller, S., Marin-Valencia, I., Davies, J.H., de Meirleir, L., Kayserili, H., Altunoglu, U., Freckmann, M.L., Warwick, L., Chitayat, D., Blaser, S., Çağlayan, A.O., Bilguvar, K., Per, H., Fagerberg, C., Christesen, H.T., Kibaek, M., Aldinger, K.A., Manchester, D., Matsumoto, N., Muramatsu, K., Saitsu, H., Shiina, M., Ogata, K., Foulds, N., Dobyns, W.B., Chi, N.C., Traver, D., Spaccini, L., Bova, S.M., Gabriel, S.B., Gunel, M., Valente, E.M., Nassogne, M.C., Bennett, E.J., Yeo, G.W., Baas, F., Lykke-Andersen, J., Gleeson, J.G.
- Source
- Full text @ Nat. Genet.
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. |
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:
|
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:
|