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Human Mutation|January 1, 1996
Allele-specific measurement of low-density lipoprotein receptor transcript levelsL G Jensen, H K Jensen, F Heath, et al.
Human Mutation|August 13, 2011
A cis-acting regulatory variation of the estrogen receptor α (ESR1) gene is associated with hepatitis B virus-related liver cirrhosisZehui Yan, Wenting Tan, Baoyan Xu, et al.
Human Mutation|March 10, 2011
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsFrancesca Lepri, Alessandro De Luca, Lorenzo Stella, et al.
Human Mutation|March 7, 2012
Knowledge engineering for health: a new discipline required to bridge the "ICT gap" between research and healthcareTim Beck, Sirisha Gollapudi, Søren Brunak, et al.
Human Mutation|July 17, 1999
Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. OnlineA M Lund, E Aström, S Söderhäll, et al.
Human Mutation|July 13, 2026
Identifying Distinct Molecular Subtypes and Establishing a Prognostic Framework for DLBCL Patients via Multiomics Analysis and Machine Learning ApproachesHongyu Shen, Jinbo Lu, Qi Yan, et al.
Human Mutation|July 11, 2026
A 2004-2025 Bibliometric Study of Genetic Variation and Multiomics Biomarkers in Sepsis Based on 940 PublicationsQiuyan Yang, Siqi Yang, Yanyan Li, et al.
Human Mutation|May 6, 2026
Whole-Exome Sequencing to Screen Personal Neoantigens With High Immunogenicity in Patients With Microsatellite Stability (MSS)-Advanced Colorectal CancerDajiang Li, Wenjing Shen, Siyu Yang, et al.
Human Mutation|April 30, 2026
Targeting the Vim-PGI2 Pathway Enhances CD8+ T Cell-Mediated Antitumor Immunity in Breast CancerHong Quan, Lujing Shao, Qi Li, et al.
Human Mutation|April 30, 2026
A Tertiary Lymphoid Structure-Derived Prognostic Signature Integrates Immune Microenvironment and Mutational Landscapes in Clear Cell Renal Cell CarcinomaXuanyu Zhou, Zhongwei Zhao, Kai Huang, et al.
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