Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia...
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
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England: Nature Publishing Group
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English
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England: Nature Publishing Group
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TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been associated with spinal muscular atrophy with bone fractures as well as a severe form of congenital muscular dystrophy. Here we...
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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8440675
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8440675
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-021-00851-8
