@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 2024/12/22}}}