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Reagents, Molecular Assay, Gene Anomaly, Mutation, TRAPPC2

Definition : Molecular assay reagents intended to identify mutations in the trafficking protein particle complex 2 (TRAPPC2) (formerly SEDL) gene, located at chromosome Xp22, which encodes for a protein thought to be part of a large multisubunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment.

Entry Terms : "Late Spondyloepiphyseal Dysplasia Gene Mutation Reagents" , "Spondyloepiphyseal Dysplasia (SED) Gene Mutation Reagents" , "X-Linked Spondyloepiphyseal Dysplasia Tarda (XLSED) Gene Mutation Reagents" , "SEDL Gene Mutation Detection Reagents" , "TRAPPC2 Gene Mutation Detection Reagents"

UMDC code : 24954

   

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