A common variant rs2272804 in the 5'UTR of RIBC2 inhibits downstream gene expression by creating an upstream open reading frame.

doi:10.26355/eurrev_202004_20851

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Article

A common variant rs2272804 in the 5'UTR of RIBC2 inhibits downstream gene expression by creating an upstream open reading frame.

European review for medical and pharmacological sciences - 1 Apr 2020

Xiong M, Wang Y-Y, Guo W-W, Cai S-W, Ning X-Y, Yang H-Y, Chen X-W, Li B, Xu M

Abstract excerpt

OBJECTIVE: The RIB43A domain with coiled-coils 2 (RIBC2) encodes an uncharacterized vertebrate protein exhibiting similarity with Chlamydomonas protofilament ribbon proteins, required for ciliary motility. To date, no functional variants capable of triggering a change in the expression of RIBC2 have been reported. PATIENTS AND METHODS: The genotypes of rs2272804 in 30 individuals were identified with Sanger...

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PMID: 32329860
DOI: 10.26355/eurrev_202004_20851

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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