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Human Mutation|August 22, 2021
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variantsGorka Ruiz de Garibay, Ignacio Fernandez-Garcia, Sylvie Mazoyer, et al.
Human Mutation|July 18, 2025
De Novo ACTB Variant Associated With Juvenile-Onset Temporal Lobe Epilepsy With Favorable OutcomesHong-Jun Yan, Peng-Yu Wang, Wen-Hui Liu, et al.
Human Mutation|July 18, 2025
Functional Analysis of Complex Structural and Splice-Altering Variants in the ARSB Gene Towards the Personalized Antisense-Based Therapy for Mucopolysaccharidosis Type VI PatientsIgor Bychkov, Alexandra Filatova, Galina Baydakova, et al.
Human Mutation|July 11, 2025
Management of Paediatric Cancers Associated With Bloom SyndromeCamille Pacaud, Charlotte Nazon, Mélanie Pages, et al.
Human Mutation|July 23, 2025
Prognostic Value of Ubiquitination-Related Genes in Ovarian Cancer and Their Correlation With Tumor ImmunityShu Zhao, Xiaojing Lin, Yuying Huang, et al.
Human Mutation|July 15, 2025
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport ActivitiesJenifer S Calvo, Tomáš Heger, Ekaterina Kabin, et al.
Human Mutation|July 14, 2025
Identification of Enzalutamide-Related Genes for Prognosis and Immunotherapy in Prostate AdenocarcinomaLian Fang, Zongming Jia, Tao Zou, et al.
Human Mutation|December 24, 2025
Homozygous Deletion of the Epigenetic Regulator PHF20 in Individuals With Neurodevelopmental DisorderShira Yanovsky Dagan, Hongwen Xuan, Jonathan Rips, et al.
Human Mutation|December 22, 2025
Metabolic and Immune Adaptations in Preterm Neonates at Early Postnatal Period: Integrated Analysis of Key Metabolites and PathwaysXiaofan Li, Yue Gan, Lan Tan, et al.
Human Mutation|December 22, 2025
Causal Relationships Between Pregnancy, Menstrual History, and Endometrial Cancer With Mediating Effects of Metabolism-Related TraitsMeifang Zhou, Suiping Dai, Tingting Zhu, et al.
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