# Identification and functional characterization of a novel nonsense mutation of CASR gene in a familial hypocalciuric hypercalcemia pedigree

**Authors:** Yang Tian, Bingyang Liu, Yang Xudan, Ruojun Qiu, Zhang Shaojun, Huang Haoshu, Wu Fang, Fenping Zheng

PMC · DOI: 10.1016/j.gendis.2025.101781 · Genes & Diseases · 2025-07-25

## Full-text entities

- **Genes:** CASR (calcium sensing receptor) [NCBI Gene 846] {aka CAR, EIG8, FHH, FIH, GPRC2A, HHC}
- **Diseases:** hypocalciuric hypercalcemia (MESH:C537145)

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Source: https://tomesphere.com/paper/PMC12856587