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

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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
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  Data: Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
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  Data: <searchLink fieldCode="JN" term="%22Genome+Medicine%22">Genome Medicine</searchLink>. 5/22/2025, p1-24. 24p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=185303958
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        Value: 10.1186/s13073-025-01467-z
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        Text: English
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              Text: 5/22/2025
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