Associated Papers
Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT.
Lyu Y et al.
Frontiers in Genetics, 2026
A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2.
Fukuma M et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2018
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