@misc{indiciaebcb85a6dcbba, title = {Improved diagnosis of patients with rare diseases through the application of constrained coding region annotation and de novo status.}, author = {Chris Odhams and Hywel J Williams}, year = {2025}, doi = {10.1016/j.gim.2025.101447}, url = {https://pubmed.ncbi.nlm.nih.gov/40276942/}, note = {Source identifier: 40276942} }