{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13(3)"],"submitter":["Tian Y"],"journal":["Genes & diseases"],"pagination":["101781"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12856587"],"repository":["biostudies-literature"],"pubmed_title":["Identification and functional characterization of a novel nonsense mutation of <i>CASR</i> gene in a familial hypocalciuric hypercalcemia pedigree."],"pmcid":["PMC12856587"],"pubmed_authors":["Haoshu H","Fang W","Tian Y","Xudan Y","Shaojun Z","Qiu R","Liu B","Zheng F"],"additional_accession":[]},"is_claimable":false,"name":"Identification and functional characterization of a novel nonsense mutation of <i>CASR</i> gene in a familial hypocalciuric hypercalcemia pedigree.","description":null,"dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 May","modification":"2026-06-19T04:47:38.95Z","creation":"2026-06-19T03:07:29.284Z"},"accession":"S-EPMC12856587","cross_references":{"pubmed":["41624914"],"doi":["10.1016/j.gendis.2025.101781"]}}