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Human Mutation|July 23, 2026
UBTD1 Drives Ovarian Cancer Progression via Mutation-Associated Alterations, Stromal Microenvironment Remodeling, and TNF/AP-1 SignalingAixin Liu, Yanxia Chen, Xian Zhao, et al.Human Mutation|July 28, 2026
Novel ALG13 Variants and an Expanded Neurodevelopmental Spectrum: Genotype-Phenotype CorrelationsSong Su, Wandong Hu, Ying Ren, et al.Human Mutation|August 1, 2026
ESR1 and PIK3CA Polymorphisms as Potential Genetic Susceptibility Markers for Breast Cancer Risk in Bangladeshi Women: A Case-Control StudyMahim Hassan Chowdhury, Faria Billal Shaolin, Nishat Tabassum Khusbu, et al.Human Mutation|August 29, 2001
APECED mutations in the autoimmune regulator (AIRE) geneM Heino, P Peterson, J Kudoh, et al.Human Mutation|August 29, 2001
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrheaP Höglund, M Sormaala, S Haila, et al.Human Mutation|March 10, 2001
Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA allelesR Martínez-Arias, D Comas, E Mateu, et al.Human Mutation|March 10, 2001
An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD)S M Edwards, Z Kote-Jarai, R Hamoudi, et al.Human Mutation|October 29, 2002
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patientsMegan A Maxwell, Tamara Allen, Pamela B Solly, et al.Human Mutation|October 29, 2002
A collection of 33 novel human mtDNA homoplasmic variantsMarco Crimi, Monica Sciacco, Sara Galbiati, et al.Human Mutation|October 29, 2002
Cyclooxygenase 1 (COX1) polymorphisms in African-American and Caucasian populationsCornelia M Ulrich, Jeannette Bigler, Justin Sibert, et al.Pageof 575