Article
Characterization of STRC Gene Conversions by Nanopore Sequencing.
Clinical chemistry - 5 May 2026
Rigon Chiara, Sorrentino Ugo, Volta Sara, Prevedello Francesco, Trevisson Eva, Salviati Leonardo, Viscomi Carlo, Cassina Matteo
Abstract excerpt
BACKGROUND: Biallelic loss-of-function variants of STRC are a frequent cause of mild to moderate nonsyndromic hearing loss. The high (>98%) sequence homology between STRC and its pseudogene STRCP1 poses a significant challenge for accurate interpretation of STRC variants using standard methods. Although STRC-STRCP1 gene conversions have frequently been inferred from next-generation sequencing and copy number...
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