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Human Mutation|December 3, 2009
An updated and upgraded L1CAM mutation databaseYvonne J Vos, Robert M W HofstraHuman Mutation|October 19, 2022
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophyManuela Lanzafame, Tiziana Nardo, Roberta Ricotti, et al.Human Mutation|July 18, 2025
Identification of Novel USH2A Mutations in a Consanguineous Chinese Family With Usher SyndromeHaolin Wang, Bo Wei, Jiaxin Guo, et al.Human Mutation|July 15, 2025
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis-Hyperphosphatemia Syndrome With a Possible Founder EffectMaryam Sedghi, Elika Esmaeilzadeh Gharehdaghi, Vahid Ziaee, et al.Human Mutation|June 23, 2025
EPHB1 Protein Promoted the Progression of Prostate Adenocarcinoma Through Phosphorylating GSK3B and Activating EPHB1-GSK3B-SMAD3 PathwayBohan Xu, Shen Lin, Kai YangHuman Mutation|November 3, 2025
Enhanced ICOS Signaling Between Dendritic Cells and T Cells Characterizes the Immune Landscape of Human CholangiocarcinomaMeiying Zhu, Yuou Li, Xiaolong Tang, et al.Human Mutation|October 1, 2025
Metabolic Reprogramming in Colorectal Cancer: The Impact of Fatty Acid MetabolismZirui Zhuang, Yu Chen, Yizhou Yao, et al.Human Mutation|September 25, 2025
Identification of ARHGAP9 as a Key Diagnostic Marker for Abdominal Aortic Aneurysm by Multiomics and Experimental ValidationZhe Peng, Kun Li, Shile Wu, et al.Human Mutation|June 27, 2025
Exploring Therapeutic Targets for Preventing Cardiac Arrest by Modulating Dyslipidemia and 25-Hydroxyvitamin D Metabolism: A Mendelian Randomization StudyXinya Jia, Keke Du, Yuanting Zhu, et al.Human Mutation|July 4, 2025
A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum MarkersKristina Falkenstein, Lukas Hoeren, Frauke Kikul, et al.Pageof 583