FGDD, an explainable dataset collected from 509 research articles. It contains 1,147 data records encompassing 197 disease-causing genes, 437 facial phenotypes, and 211 disease entities, with 689 reco
BackgroundCornelia de Lange syndrome (CdLS) is a genetic disorder caused by variants in cohesion genes including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. According to the 2018 consensus statement, a pati
Hbs1 has been established as a central component of the cell’s translational quality control pathways in both yeast and prokaryotic models; however, the functional characteristics of its human ortholo
The probability of identifying rare variants with equal frequencies in samples of randomly ascertained individuals when the rare variants residue on separate haplotypes. (0.05 MB DOC)
