A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing
10.1371/journal.pgen.1008460
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2021
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sg-nus-scholar.10635-2096392024-11-08T19:18:35Z A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing Chen, T. Zhang, B. Ziegenhals, T. Prusty, A.B. Fröhler, S. Grimm, C. Hu, Y. Schaefke, B. Fang, L. Zhang, M. Kraemer, N. Kaindl, A.M. Fischer, U. Chen, W. CANCER SCIENCE INSTITUTE OF SINGAPORE 10.1371/journal.pgen.1008460 PLoS Genetics 15 10 e1008460 2021-12-06T04:29:08Z 2021-12-06T04:29:08Z 2019 Article Chen, T., Zhang, B., Ziegenhals, T., Prusty, A.B., Fröhler, S., Grimm, C., Hu, Y., Schaefke, B., Fang, L., Zhang, M., Kraemer, N., Kaindl, A.M., Fischer, U., Chen, W. (2019). A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing. PLoS Genetics 15 (10) : e1008460. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1008460 1553-7390 https://scholarbank.nus.edu.sg/handle/10635/209639 Attribution 4.0 International https://creativecommons.org/licenses/by/4.0/ Public Library of Science Scopus OA2019 |
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National University of Singapore |
building |
NUS Library |
continent |
Asia |
country |
Singapore Singapore |
content_provider |
NUS Library |
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ScholarBank@NUS |
description |
10.1371/journal.pgen.1008460 |
author2 |
CANCER SCIENCE INSTITUTE OF SINGAPORE |
author_facet |
CANCER SCIENCE INSTITUTE OF SINGAPORE Chen, T. Zhang, B. Ziegenhals, T. Prusty, A.B. Fröhler, S. Grimm, C. Hu, Y. Schaefke, B. Fang, L. Zhang, M. Kraemer, N. Kaindl, A.M. Fischer, U. Chen, W. |
format |
Article |
author |
Chen, T. Zhang, B. Ziegenhals, T. Prusty, A.B. Fröhler, S. Grimm, C. Hu, Y. Schaefke, B. Fang, L. Zhang, M. Kraemer, N. Kaindl, A.M. Fischer, U. Chen, W. |
spellingShingle |
Chen, T. Zhang, B. Ziegenhals, T. Prusty, A.B. Fröhler, S. Grimm, C. Hu, Y. Schaefke, B. Fang, L. Zhang, M. Kraemer, N. Kaindl, A.M. Fischer, U. Chen, W. A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing |
author_sort |
Chen, T. |
title |
A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing |
title_short |
A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing |
title_full |
A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing |
title_fullStr |
A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing |
title_full_unstemmed |
A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing |
title_sort |
missense mutation in snrpe linked to non-syndromal microcephaly interferes with u snrnp assembly and pre-mrna splicing |
publisher |
Public Library of Science |
publishDate |
2021 |
url |
https://scholarbank.nus.edu.sg/handle/10635/209639 |
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1821212002404532224 |