@article{article, title = {{Genomic technologies identify milder presentations of Mendelian disease}}, publisher = {{Springer Science and Business Media LLC}}, url = {{http://dx.doi.org/10.1038/s41431-024-01682-z }}, year = {{2024}}, month = {{9}}, author = {{McNeill A}}, doi = {{10.1038/s41431-024-01682-z}}, volume = {{32}}, journal = {{European Journal of Human Genetics}}, issue = {{9}}, pages = {{1033-1034}}, note = {{Accessed on 2025/07/06}}}