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Updated: Jun 2, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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A novel COL3A1 gene variant associated with sudden death due to spontaneous pneumothorax

Syeda Hania Qamar1,2, Maliha Khara3,4, Jayantha C Herath3,4

  • 1Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada. hania.qamar@mail.utoronto.ca.

Forensic Science, Medicine, and Pathology
|January 14, 2025
PubMed

Keywords:
COL3A1 mutationGenetic testingSpontaneous pneumothorax

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