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Human Mutation|December 31, 2013
Heterozygote PCR product melting curve predictionZachary L Dwight, Robert Palais, Jana Kent, et al.Human Mutation|May 18, 2026
Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian PopulationJennifer Ling, Mustansir Pindwarawala, Cheryl Y Gregory-Evans, et al.Human Mutation|May 18, 2026
Integrating Bulk and Single-Cell RNA-Seq Reveals Glycolysis-Associated Macrophages and Its Related Tumor Subgroup Signatures to Predict Prognosis and Therapy in Clear Cell Renal Cell CarcinomaYang Li, Yuan Chen, Ling Wang, et al.Human Mutation|May 25, 2026
NDUFA4 Deletion Upregulates VDAC1 to Promote Mitochondrial Damage, Endoplasmic Reticulum Expansion, and Neuronal ApoptosisLushan Li, Fang Fu, Ru Li, et al.Human Mutation|May 25, 2026
A New Wnt1 Mutant Rat Model of Osteogenesis Imperfecta and Its Application in AAV9-Mediated Gene TherapyShan Li, Xiumin Chen, Yixuan Cao, et al.Human Mutation|May 28, 2026
CENPA as a Genome Stability-Associated Biomarker in Hepatocellular Carcinoma: Multiomics Analysis and Experimental ValidationHaichao Shi, Litao Sun, Pengyan Zhang, et al.Human Mutation|May 25, 2026
Causal Mediation of Immune Cells and Fatty Acids in Coronary Atherosclerosis: Insights From Mendelian Randomization AnalysisYong Zhang, Jia Xu, Zhihao Deng, et al.Human Mutation|May 25, 2026
TRMT10A-Related Neurodevelopmental Disorder Without Metabolic FindingsDöndü Ülker Üstebay, İrem Aksu Şahin, Sefer Üstebay, et al.Human Mutation|May 25, 2026
From Variant to Biomarker in NSCLC Immunotherapy Resistance: Multiomics Evidence Chains and Accountable AI IntegrationYiqing Jiang, Na Wang, Qin Zeng, et al.Human Mutation|May 18, 2026
Experimental Validation and Bioinformatics Analysis Elucidate the Role of MTDH-Mediated PTEN Ubiquitination and Degradation in Podocyte Injury in Diabetic Kidney DiseaseZerong Zheng, Danping Tao, Wenting Wu, et al.Pageof 578