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Open Access Rapid Communication Issue
Identification of novel compound heterozygous variants of the PNPLA6 gene in Oliver-McFarlane syndrome with concomitant insulin resistance
Ruojun Qiu, Mingming Tang, Weifen Zhu, Binghong Wang, Wenyu Li, Yongzhen Lei, Fenping Zheng
Genes & Diseases 2026, 13(5)
Published: 14 December 2025
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Open Access Rapid Communication Issue
Identification and functional characterization of a novel nonsense mutation of CASR gene in a familial hypocalciuric hypercalcemia pedigree
Yang Tian, Bingyang Liu, Yang Xudan, Ruojun Qiu, Zhang Shaojun, Huang Haoshu, Wu Fang, Fenping Zheng
Genes & Diseases 2026, 13(3)
Published: 25 July 2025
Abstract PDF (3.2 MB) Collect
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