
Josephine Bowles
Articles
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Jun 15, 2023 |
nature.com | Katie Ayers |Nicole A. Siddall |Liang Zhao |Josephine Bowles |Ginevra Zanni |Lydie Burglen | +6 more
Correction to: Nature Communications https://doi.org/10.1038/s41467-023-39040-0, published online 09 June 2023In this article, the author name Kenneth McElreavey was incorrectly written as Kenneth MacElreavey. The original article has been corrected.
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Jun 9, 2023 |
nature.com | Katie Ayers |Liang Zhao |Josephine Bowles |Ginevra Zanni |Lydie Burglen |Ralf B. Schittenhelm | +6 more
AbstractSquamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome. Here, we identify recessive variants in SART3 in nine individuals presenting with intellectual disability, global developmental delay and a subset of brain anomalies, together with gonadal dysgenesis in 46,XY individuals.
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