INPLASY202510082

Clinicogenetic Characterization of SLC29A3-related Syndromes: A Case Series, Tracing Ancestral Variants, and Molecular Dynamics Simulation

Keywords: SLC29A3, SLC29A3-related syndromes, Inborn Errors of Immunity, hENT3, Exome Sequencing, RNA Sequencing, Inflammation.

Review Status: ongoing