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Year | Number of Results |
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2011 | 1 |
2021 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 84081
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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Genet Med. 2021 Dec;23(12):2455-2460. doi: 10.1038/s41436-021-01291-x. Epub 2021 Aug 12.
Genet Med. 2021.
PMID: 34385670
Free PMC article.
NSrp70 is a novel nuclear speckle-related protein that modulates alternative pre-mRNA splicing in vivo.
Kim YD, Lee JY, Oh KM, Araki M, Araki K, Yamamura K, Jun CD.
Kim YD, et al.
Nucleic Acids Res. 2011 May;39(10):4300-14. doi: 10.1093/nar/gkq1267. Epub 2011 Feb 3.
Nucleic Acids Res. 2011.
PMID: 21296756
Free PMC article.
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