1.
Mohan S, McNulty S, Thaxton C, et al. Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.05.03.592369.
1.
Mohan S, McNulty S, Thaxton C, et al. Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.05.03.592369.
1.
Walker LC, de la Hoya M, Wiggins GAR, et al. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup. American journal of human genetics. 2023. doi:10.1016/j.ajhg.2023.06.002.