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
41725728 (PubMed )
Supplement: Table_1.xlsx › Variants_in_III-2
Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease.
Hsueh HW et al.
Neurology. Genetics, 2023
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