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Human Mutation|December 3, 2009
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportionMichael W Lawlor, Elizabeth T Dechene, Emily Roumm, et al.
Human Mutation|December 3, 2009
RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseasesThoralf Töpel, Dagmar Scheible, Friedrich Trefz, et al.
Human Mutation|December 3, 2009
An updated and upgraded L1CAM mutation databaseYvonne J Vos, Robert M W Hofstra
Human 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 Yang
Human 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.
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