@article{article, title  = {{Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing}},

 publisher = {{American Association for the Advancement of Science (AAAS)}},

 url = {{https://doi.org/10.1126/scitranslmed.aeb1331 }},

 year = {{2026}},

 month = {{9}},

 author = {{Carrasco-Zanini J and Andrade J and Pietzner M and Kousathanas A and Jacobsen JOB and Lord J and Telugu N and Diecke S and Mülleder M and Bierbaum D and Vestito L et al}},

 doi = {{10.1126/scitranslmed.aeb1331}},

 volume = {{18}},

 journal = {{Science Translational Medicine}},

 issue = {{866}},

 note = {{Accessed on 2026/09/23}}}