Associated Papers
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.
Koch RL et al.
Npj Genomic Medicine, 2025
41213961 (PubMed )
Supplement: 41525_2025_527_MOESM1_ESM.pdf
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Select a paper to view details