Associated Papers
A novel non-sense variant in GSDME causing exon skipping associated with DFNA5 in a large Chinese family.
Yang B et al.
Frontiers in Neurology, 2026
Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays.
Rosso LE et al.
Biomedicines, 2025
[Splicing mutations of GSDME cause late-onset non-syndromic hearing loss].
Li D et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2024
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