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Human Mutation|July 17, 2021
Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X-chromosome inactivation skewingYixi Sun, Yali Yang, Yuqin Luo, et al.
Human Mutation|January 1, 1994
Complex arylsulfatase A alleles causing metachromatic leukodystrophyJ Kappler, H J Sommerlade, K von Figura, et al.
Human Mutation|February 11, 2011
Recurrence and variability of germline EPCAM deletions in Lynch syndromeRoland P Kuiper, Lisenka E L M Vissers, Ramprasath Venkatachalam, et al.
Human Mutation|June 22, 2026
CDHR2 c.2233C > T Is Involved in Human Familial Ovarian Immature Teratoma With BMP15 c.262C > TYuntao Hao, Xi Kang, Yakun Liu, et al.
Human Mutation|July 8, 2026
Single-Cell and Multiomics Characterization of p21 in Cancer Progression and Therapeutic SensitivityWenyang Zhang, Qinglong Ma, Honghui Zhao, et al.
Human Mutation|June 29, 2026
Pharmacovigilance Signal Detection and Mutually Exclusive Driver Mutations of the PI3K/AKT Pathway in Breast Cancer Treated With CapivasertibZhanyang Luo, Yi Shi, Bukun Zhu, et al.
Human Mutation|July 6, 2026
COL1A1 and SERPINE1 as Potential Therapeutic Targets in Diabetic Retinopathy: A Study Incorporating RNA Transcriptomics, Single-Cell RNA Sequencing, and ProteomicsXiaomei Nie, Gang Su, Ran Zhang, et al.
Human Mutation|August 20, 2015
Diagnostic interpretation of array data using public databases and internet sourcesNicole de Leeuw, Trijnie Dijkhuizen, Jayne Y Hehir-Kwa, et al.
Human Mutation|May 28, 2026
A Spatially Constrained Fibroblast-Myeloid Program Associates With Immune Exclusion and Poor Prognosis in Lung AdenocarcinomaYujun Zhou, Xinyang Ren, Rongxin Li, et al.
Human Mutation|June 8, 2026
E2F4 Mediates Mitophagy to Inhibit Ferroptosis in Esophageal Cancer Cells by Activating GPR176Weilang Xu, Fang Su, Luxuan Xie, et al.
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