Associated Papers
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact.
Canson DM et al.
Npj Genomic Medicine, 2025
40341019 (PubMed )
Supplement: 41525_2025_498_MOESM2_ESM.xlsx › Data_S2
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
D'Alessandro LC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Inducible nitric oxide synthase: role of the N-terminal beta-hairpin hook and pterin-binding segment in dimerization and tetrahydrobiopterin interaction.
Ghosh DK et al.
The Embo Journal, 1999
Targeted mutagenesis of the human papillomavirus type 16 E2 transactivation domain reveals separable transcriptional activation and DNA replication functions.
Sakai H et al.
Journal of Virology, 1996
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