Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy
Shruthi Mohan, Shannon M. McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maīga, Kelly Macalalad, , 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.
Annals of Clinical and Translational Neurology · Aug 30, 2024Peer-reviewedGenetics