TY  - RPRT
TI  - Improved diagnosis of patients with rare diseases through the application of constrained coding region annotation and de novo status.
AU  - Chris Odhams
AU  - Hywel J Williams
PY  - 2025
DO  - 10.1016/j.gim.2025.101447
UR  - https://pubmed.ncbi.nlm.nih.gov/40276942/
ID  - 40276942
ER  -