General Information Title: Fabry Disease: AI-Extracted Clinical Dataset from Published Case Reports Version: 1.0.0 Date of export: 2026-02-27 Created by: Silene Systems (AI-powered clinical data
Analysis of simulated disease architecture with 180 causal 1Mbp loci yielding a true . In each locus, 1–10 causal variants were sampled from either low-frequency () of common (MAF) WTCCC2 SNPs. For ea
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
Regression models of the relationship between age at onset (Ageo) and the progenitor allele length (ePAL) estimated from two different DNA tissue sources of the same DM1 patient.
