Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
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ORCID: https://orcid.org/0000-0002-2048-3383
(2025)
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Genome Medicine, 17 (1).
ISSN 1756-994X
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| Item type | Article |
| URI | https://vuir.vu.edu.au/id/eprint/49643 |
| DOI | 10.1186/s13073-025-01467-z |
| Official URL | https://doi.org/10.1186/s13073-025-01467-z |
| Subjects | Current > FOR (2020) Classification > 3105 Genetics Current > FOR (2020) Classification > 3202 Clinical sciences Current > Division/Research > Institute for Health and Sport |
| Keywords | proteomics; genetic diagnostics; mendelian disease; ultra-rapid genome sequencing; variant prioritisation |
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