Article

Distinct heterozygous <i>TTC7A</i> missense variants lead to different intestinal epithelial phenotypes in pediatric IBD

2025-06-13

Abstract excerpt

Pathogenic mutations in Tetratricopeptide repeat domain 7A ( TTC7A ) result in gastrointestinal and immunological disorders of which the pathobiology is not fully understood. Previous case reports indicate that TTC7A plays an important role in preserving intestinal epithelial integrity, but thus far only few variants have been investigated and it is unclear if different variants exert the same effects. Here, we a...

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Literature Corpus work: ef6aeb71-7615-5f9b-8383-d0d2b40e2b3f
DOI: 10.1101/2025.06.11.659065

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