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Human Mutation|October 30, 2013
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) geneCécile Balmer, Amit V Pandey, Véronique Rüfenacht, et al.Human Mutation|November 28, 2013
Targeted knock-in of the polymorphism rs61764370 does not affect KRAS expression but reduces let-7 levelsEmily Hannah Crowley, Sabrina Arena, Simona Lamba, et al.Human Mutation|December 11, 2013
Functional assays for analysis of variants of uncertain significance in BRCA2Lucia Guidugli, Aura Carreira, Sandrine M Caputo, et al.Human Mutation|October 18, 2014
MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulationDiana Zahnleiter, Nadine N Hauer, Kristin Kessler, et al.Human Mutation|November 8, 2014
Functional characterization and classification of frequent low-density lipoprotein receptor variantsAitor Etxebarria, Asier Benito-Vicente, Lourdes Palacios, et al.Human Mutation|April 6, 2026
SELL Marks an Effector-Deficient CD8+ T Cell Subset That Promotes Intracerebral Hemorrhage and Responds to Rutin TherapyYan Huang, Haochen Xu, Congxia Bai, et al.Human Mutation|April 3, 2026
A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi PopulationNancy S Younis, Rahma M Alkabsh, Shahad M Nasser Alqahtani, et al.Human Mutation|April 13, 2026
Panomics Integration via Machine Learning Prioritizes TAF1D as a Therapeutic Vulnerability in Lung AdenocarcinomaLan Ding, Qingmei Xu, Dongdong Liu, et al.Human Mutation|April 20, 2026
A Combined Transcriptomic and Machine Learning Study Reveals PAX8 as a Promising Diagnostic Biomarker in EndometriosisXiaoli Zhu, Li Zhong, Yanlin Xu, et al.Human Mutation|April 20, 2026
Multiomics Biomarkers for Differential Diagnosis of Pleural Effusion: Integration of Proteomic Markers and Single-Cell TranscriptomicsZhengyou Zhang, Shaowei Zhan, Ying Tang, et al.Pageof 578