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Human Mutation|June 29, 2026
Driver Mutation Subtypes Differentially Shape Immune Evasion Landscapes in Melanoma: An AI-Driven Inflammatory Pathway Model Implicating CCNE1Chong Mao, Guobin Chen, Jiayu Tang, et al.Human Mutation|June 19, 2026
Causal Effects and Single-Cell Microenvironmental Implications of Germline Variant-Regulated Lactylation-Related Pro-Oncogenic Genes in Colorectal CancerBiao Sheng, Jianwei WangHuman Mutation|June 19, 2026
Integrative Multiomics Analysis Identifies DKK3 as a Germline Susceptibility-Related Regulator of Risperidone Response and Metabolic Risk in SchizophreniaXiaoyun Zhang, Jingjing Li, Yao Sun, et al.Human Mutation|June 19, 2026
Translating Osteoarthritis Genetic Risk Into Biomarkers: Opportunities, Pitfalls, and Implementation ConsiderationsTao Meng, Lina Ma, Xiaoqing Zhang, et al.Human Mutation|July 10, 2026
Immune Cell Profiles and Novel Insights Into Cancer Risk: A Focus on Oral and Pharyngeal CancerXin Deng, Shaohong HuangHuman Mutation|February 6, 1998
The first pathogenic mitochondrial methionine tRNA point mutation is discovered in splenic lymphomaA Lombès, D Bories, E Girodon, et al.Human Mutation|July 26, 2026
Single-Cell and Machine Learning Analyses Identify MYDGF as an Immune-Related Biomarker Associated With the Tumor Microenvironment in Clear Cell Renal Cell CarcinomaYingkun Xu, Guandu Li, Xinxiu Ren, et al.Human Mutation|January 9, 2007
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotypeWayne A Cabral, Elena Makareeva, Anne D Letocha, et al.Human Mutation|July 16, 2026
Multimodal Analysis Reveals Immune Suppression Associated With Hepatocellular Carcinoma Related to RBM27 and Constructs a Prognostic ModelWenjuan Gao, Dongwei Cong, Xiuqi Chen, et al.Human Mutation|January 11, 2000
First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patientH Morisaki, I Higuchi, M Abe, et al.Pageof 583