GenomicsbioRxivPreprint
Structure-Aware Mapping of Disease-Relevant Missense Variation in Nuclear Pore complex Genes
Fatemeh Yekeh Yazdandoost, Mohammad S. Parsa
The paper develops a variant interpretation pipeline for nucleoporin genes by integrating structural context and curated clinical data with weakly supervised pseudo-labeling.
DOI 10.1101/2025.10.27.684907