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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.
Human Mutation|December 24, 2025
FLLL31 Induces Apoptosis via the FOXO4/BCL6 Axis to Inhibit Bladder Cancer ProgressionYu Han, Jingxuan Peng, Wenjie Yan, et al.
Human Mutation|December 22, 2025
Correction to "Genotype-phenotype correlations in individuals with pathogenic RERE variants"
Human Mutation|December 22, 2025
Stem Cell-Related Gene CALR as a Novel Prognostic Factor for Bladder Cancer: Implications for ImmunotherapyZhihao Ling, Shuo He, Tianyu Li, et al.
Human Mutation|April 14, 2025
Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs∗41) by Whole-Exome Sequencing in Patients with Crohn's DiseaseJintong Chen, Yanni Huang, Huaning Chen, et al.
Human Mutation|April 14, 2025
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius SyndromeHannie Douben, Marianne Hoogeveen-Westerveld, Mark Nellist, et al.
Human Mutation|April 14, 2025
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based TreatmentsBianca Zardetto, Willeke van Roon-Mom, Annemieke Aartsma-Rus, et al.
Human Mutation|April 14, 2025
Functional Analysis of 3'UTR Variants at the LDLR and PCSK9 Genes in Patients with Familial HypercholesterolemiaJavier Sanguino Otero, Carmen Rodríguez-Jiménez, Jose Mostaza Prieto, et al.
Human Mutation|April 14, 2025
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome SequencingFen Guo, Ruby Liu, Yinghong Pan, et al.
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