TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
- Cited forFUNCTION, INTERACTION WITH DYNC2I1, INVOLVEMENT IN SRTD17, VARIANT SRTD17 88-ARG--TYR-142 DEL, SUBUNIT
- CategoriesFunction, Sequences, Disease & Variants, Interaction
- SourceUniProtKB reviewed (Swiss-Prot)