TY  - JOUR

T1  - Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing

JO  - Science Translational Medicine

UR  - https://doi.org/10.1126/scitranslmed.aeb1331

PY  - 2026/09/09

AU  - Carrasco-Zanini J

AU  - Andrade J

AU  - Pietzner M

AU  - Kousathanas A

AU  - Jacobsen JOB

AU  - Lord J

AU  - Telugu N

AU  - Diecke S

AU  - Mülleder M

AU  - Bierbaum D

AU  - Vestito L et al

ED  - 

DO  - DOI: 10.1126/scitranslmed.aeb1331

PB  - American Association for the Advancement of Science (AAAS)

VL  - 18

IS  - 866

Y2  - 2026/09/23

ER  -