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Human Mutation|June 23, 2025
ACOCMPMI: An Ant Colony Optimization Algorithm Based on Composite Multiscale Part Mutual Information for Detecting Epistatic InteractionsYan Sun, Jing Wang, Yaxuan Zhang, et al.Human Mutation|June 19, 2025
A Nomogram Combining Two Novel Biomarkers for Predicting Lung Adenocarcinoma in Ground-Glass Nodule PatientsYameng Li, Qingxian ZhangHuman Mutation|May 1, 2025
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature ReviewJun Kido, Keishin Sugawara, Sotiria Tavoulari, et al.Human Mutation|May 1, 2025
Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream SignalingTitas Gladkauskas, Ileana Cristea, Roya Mehrasa, et al.Human Mutation|April 23, 2025
Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable ImmunodeficiencyTayebeh Ranjbarnejad, Hassan Abolhassani, Roya Sherkat, et al.Human Mutation|April 14, 2025
The Association of Heterozygous p.R4810K of RNF213 and Long-Term Unfavorable Outcomes after Encephaloduroarteriosynangiosis in Chinese Pediatric Patients with Moyamoya DiseaseQingbao Guo, Fangbin Hao, Qian-Nan Wang, et al.Human Mutation|April 14, 2025
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex DeficiencyHelene Bruhn, Karin Naess, Sofia Ygberg, et al.Human Mutation|April 14, 2025
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum DeformityCristina Chelleri, Marcello Scala, Patrizia De Marco, et al.Human Mutation|April 14, 2025
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) GeneJoshua S Clayton, Mridul Johari, Rhonda L Taylor, et al.Human Mutation|April 14, 2025
Quantitative Phenotype Morbidity Description of SATB2-Associated SyndromeYuri A Zarate, Katherine Bosanko, Amrit Kannan, et al.Pageof 575