View in EDS HTML Full Text PDF Full Text

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

Saved in:
Bibliographic Details
Title: Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Authors: Hock, Daniella H.1,2,3 (AUTHOR) daniella.hock@unimelb.edu.au, Caruana, Nikeisha J.1,4 (AUTHOR), Semcesen, Liana N.1 (AUTHOR), Lake, Nicole J.5 (AUTHOR), Formosa, Luke E.6 (AUTHOR), Amarasekera, Sumudu S. C.2 (AUTHOR), Stait, Tegan2 (AUTHOR), Tregoning, Simone2 (AUTHOR), Frajman, Leah E.2 (AUTHOR), Bournazos, Adam M.7,8,9 (AUTHOR), Robinson, David R. L.1 (AUTHOR), Ball, Megan2,10,11 (AUTHOR), Reljic, Boris1,6 (AUTHOR), Ryder, Bryony12 (AUTHOR), Wallis, Mathew J.13,14 (AUTHOR), Vasudevan, Anand15 (AUTHOR), Beck, Cara3 (AUTHOR), Peters, Heidi10,11 (AUTHOR), Lee, Joy3,11 (AUTHOR), Tan, Natalie B.2,3,10 (AUTHOR)
Source: Genome Medicine. 5/22/2025, p1-24. 24p.
Database: Academic Search Ultimate
Full text is not displayed to guests.
Description
ISSN:1756994X
DOI:10.1186/s13073-025-01467-z