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Additional file 1 of Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases

Title:	Additional file 1 of Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
Authors:	Daniella H. Hock; Nikeisha J. Caruana; Liana N. Semcesen; Nicole J. Lake; Luke E. Formosa; Sumudu S. C. Amarasekera; Tegan Stait; Simone Tregoning; Leah E. Frajman; Adam M. Bournazos; David R. L. Robinson; Megan Ball; Boris Reljic; Bryony Ryder; Mathew J. Wallis; Anand Vasudevan; Cara Beck; Heidi Peters; Joy Lee; Natalie B. Tan; Mary-Louise Freckmann; Vasiliki Karlaftis; Chantal Attard; Paul Monagle; Amanda Samarasinghe; Rosie Brown; Weimin Bi; Monkol Lek; Robert McFarland; Robert W. Taylor; Michael T. Ryan; Sandra T. Cooper; Zornitza Stark; John Christodoulou; Alison G. Compton; David R. Thorburn; David A. Stroud
Publication Year:	2025
Subject Terms:	Genetics; Proteomics; Genetic diagnostics; Mendelian disease; Ultra-rapid genome sequencing; Variant prioritisation
Description:	Additional file 1: Table S1. Detailed genetic information for the validation (VC), knockout (KC), undiagnosed (UDP) and supporting cohorts (SC).
Document Type:	dataset
Language:	unknown
DOI:	10.6084/m9.figshare.29124407.v1
Availability:	https://doi.org/10.6084/m9.figshare.29124407.v1; https://figshare.com/articles/dataset/Additional_file_1_of_Untargeted_proteomics_enables_ultra-rapid_variant_prioritisation_in_mitochondrial_and_other_rare_diseases/29124407
Rights:	CC BY
Accession Number:	edsbas.F5876829
Database:	BASE