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
Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss.
Xiao Y et al.
Human Genetics, 2024
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.
Li Q et al.
Bmc Medical Genomics, 2022
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
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