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Journal of Molecular Medicine · 2025 · Vol. 103 · Issue 8 · Springer
The HOMER2 gene, crucial for synaptic signaling and calcium homeostasis in the auditory system, is linked to sensorineural hearing loss (SNHL), with its variants contributing to severe SNHL in older adults, often necessitating cochlear implants in their 60 s or 70 s. In this study, we identified a novel frameshift extension variant, c.1033delC (p.Arg345Glu fs *64; p.R345E fs *64), which introduces a significantly longer protei...