Associated Papers
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D et al.
The Journal of Clinical Investigation, 2024
37962958 (PubMed )
Supplement: jci-134-171235-s254.xlsx › Figure_1D
Domains and residues of the Saccharomyces cerevisiae hnRNP protein Hrp1 important for transcriptional autoregulation and noncoding RNA termination.
Goguen EC et al.
Genetics, 2023
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2023
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