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Article

A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.

Journal of genetics - 1 Apr 2009

Guo Hong, Xu Xueqing, Wang Kai, Zhang Bo, Deng Guohong, Wang Yan, Bai Yun

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19417549
DOI: 10.1007/s12041-009-0012-3

Genes

TRAPPC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.PMID 19417549Read ↗

Novel TRAPPC2 mutation in a boy with X-linked spondylo-epiphyseal dysplasia tarda.Semantic proximity Read ↗

A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.Semantic proximity Read ↗

Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.Semantic proximity Read ↗

A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.Semantic proximity Read ↗

RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder.Semantic proximity Read ↗

A novel homozygous nonsense mutation in GYPB causes S-s-U-phenotype.Semantic proximity Read ↗

Introducing a novel homozygote TRAPPC10 mutation as a potential cause of developmental delay and intellectual disability in an Iranian familySemantic proximity Read ↗

Novel deep intronic and frameshift mutations causing a TRIP11-related disorder.Semantic proximity Read ↗

A Rare Mutation in TRRAP Gene and the Expanded New Phenotype.Semantic proximity Read ↗

Novel mutation in SP2 in a Chinese pedigree with Neural tube defects.Semantic proximity Read ↗

A novel WISP3 mutation in a Chinese patient with progressive pseudorheumatoid dysplasia.Semantic proximity Read ↗

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).Semantic proximity Read ↗

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