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
Comparison of prediction quality for different parameters with regard to clinical phenotype (classic, variant, classic/variant, see Table S1); variance estimates from ordinal regressions for the outco
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
PKDL is a well-known sequal of VL. However it is still unclear what factor mediate the shifting of the parasites from visceral to dermal site. Also it is not fully understood whether the parasite in P
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
