meranelakel9Mar 312 minGet to Know The Rory Belle FoundationAbout NARS1 Disorder The first pathogenic variants for NARS1(asparaginyl-tRNA synthetase 1) disorder were reported in 2020. The NARS1...
meranelakel9Mar 194 minGet to Know the Pediatric Epilepsy Surgery AllianceAbout Pediatric Epilepsy Surgery: Surgery is the least utilized treatment in all of epilepsy. Many different surgeries can stop or reduce...
meranelakel9Jan 162 minGet to Know CTNNB1 Connect and Cure (CCC)About CTNNB1 syndrome CTNNB1 syndrome is a rare neurodevelopmental disorder caused by variants in the CTNNB1 gene, located at 3p21. As of...
meranelakel9Nov 29, 20234 minGet to Know ASXL Rare Research Endowment (ARRE) FoundationAbout ASXL-related disorders ASXL-related disorders are ultra-rare neurodevelopmental disorders typically caused by a de novo change to...