Variable skeletal phenotypes associated with biallelic variants in PRKG2.
Pagnamenta AT., Diaz-Gonzalez F., Banos-Pinero B., Ferla MP., Toosi MB., Calder AD., Karimiani EG., Doosti M., Wainwright A., Wordsworth P., Bailey K., Ejeskär K., Lester T., Maroofian R., Heath KE., Tajsharghi H., Shears D., Taylor JC., Genomics England Research Consortium .
codon, frameshift mutation, genomics, musculoskeletal diseases, nonsense, phenotype, Alleles, Bone and Bones, Cyclic GMP-Dependent Protein Kinase Type II, Humans, Mutation, Phenotype