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Human Mutation|September 22, 2016
Increased Population Risk of AIP-Related Acromegaly and Gigantism in IrelandSerban Radian, Yoan Diekmann, Plamena Gabrovska, et al.Human Mutation|June 12, 2019
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairmentAngélique Quartier, Jérémie Courraud, Thuong Thi Ha, et al.Human Mutation|June 18, 2026
A Macrophage/Monocyte-Related Four-Gene Signature for Prognostic Assessment of Uveal Melanoma: BTBD6, C2CD4B, CCL24, and S100A4Yuhui Yu, Mengya Wang, Bin ZhaoHuman Mutation|June 15, 2026
Resveratrol Ameliorates Diabetic Peripheral Neuropathy via the AMPK/mTOR/Bcl-2 Axis: Integrative Evidence From Network Pharmacology, Mendelian Randomization, and Binding-Site Evolutionary ConstraintCheng Zhang, Guokang Mo, Yongxing Zhang, et al.Human Mutation|June 18, 2026
A Novel Gain-of-Function GLUL Variant Is Associated With Developmental and Epileptic Encephalopathy With Enlarged Perivascular SpacesTenghui Wu, Fang He, Xiaoyuan Ni, et al.Human Mutation|April 24, 2001
A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicismsA Baumer, U Wiedemann, M Hergersberg, et al.Human Mutation|January 4, 2001
A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3Y Yamada, H Goto, N Wakamatsu, et al.Human Mutation|January 1, 1993
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type IM Grompe, M al-DhalimyHuman Mutation|January 1, 1996
A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemiaU M Koivisto, K KontulaHuman Mutation|July 12, 2026
S100A8/S100A9 Links Diabetic Stress to Cardiac Progenitor Cell Dysfunction and Fibrotic Heart Failure: An Integrated Transcriptomic, Single-Cell, and Functional StudyYang Yang, Ge CaoPageof 583