[These mutant proteins were retained in the endoplasmic reticulum (ER), suggesting that ER stress (ERS) and subsequent ERS-induced cell death may be responsible for hearing loss caused by these GJB2 truncation mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE