GeneticsAnnals of Clinical and Translational NeurologyPeer-reviewed
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy
Shruthi Mohan, Shannon M. McNulty, Courtney Thaxton…·Conrad Chris Weihl
The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.
4 citations