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Human Mutation 封面图

Human Mutation

IF3.7
论文数5486
被引数13030
期刊论文 5486
发表时间
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Integrated Multiomics and Functional Validation Identify CLSPN as a Central Integrator of Genomic Instability and Immune Remodeling in Colorectal Cancer整合多组学和功能验证识别CLSPN为结直肠癌中基因组不稳定性和免疫重塑的中心整合器
deleteHuman Mutation
IF3.7
delete2026-10-28
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deletePeng Wang; Jianyu Xia; Lexin Wang; Biao Hu; Haoran Jiang; Xinglan Wang; Xiaolu Fang; Xuekai Liu; Xiang Zhao; Xiaosong Li
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Partial Loss of FITM2 Function Causes Hereditary Spastic ParaplegiaFITM2功能部分缺失导致遗传性痉挛性截瘫
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IF3.7
delete2026-10-23
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deleteAinara Salazar-Villacorta; Laura M. Bond; Leehyeon Kim; Katherine Anagnostopoulou; Annarita Scardamaglia; Eugenia Filippakopoulou; Athina Ververi; Stephanie Efthymiou; Argirios Dinopoulos; David Murphy; Chrisoula Kartanou; Dimitrios M. Vrachnos; Theodoros Loupis; Perilikis Makrythanasis; Leonidas Stefanis; Georgia Karadima; Georgios Koutsis; Marios Kaliakatsos; Henry Houlden; Tobias C. Walther; Robert V. Farese
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Somatic Mutation–Informed Transcriptional Architecture of Hepatocellular Carcinoma: A Multiomics Study Centered on TP53体细胞突变指导下的肝细胞癌转录组结构：一项以TP53为中心的多组学研究
deleteHuman Mutation
IF3.7
delete2026-10-09
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PREAI
deleteSheng Zhang; Guojun Zhang; Wenxuan Wang; Hong Luo; Huaping Chen
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Pathogenic Mechanisms of Two Novel Variants in the GJB1 GeneGJB1基因中两种新型变异体的致病机制
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IF3.7
delete2026-10-09
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PREAI
deleteFenliang Xiao; Miaojing Xu; Wei Li; Zijian Xu; Haishan Jiang; Shaogang Qu
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VarSim: A Python Toolkit for HGVS Variant Description Validation, Normalization, and Representation ConversionVarSim：一个用于HGVS变异描述验证、标准化和表示转换的Python工具包
deleteHuman Mutation
IF3.7
delete2026-10-09
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PREAI
deleteLiu Sun; Rongshu Wang; Jian Yang
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Xeroderma Pigmentosum Monozygotic Twins: Same Mutation Divergent Clinical Outcomes着色性干皮病单卵双胞胎：相同突变导致不同的临床结果
deleteHuman Mutation
IF3.7
delete2026-10-08
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deleteJosé Pereira dos Santos Júnior; Maria Carolina Fernandes Cabral dos Santos; Lidiane Gomes da Silva; Wilson José da Silva Júnior; Camila Corradi; Veridiana Munford; Valdir de Queiroz Balbino; Túlio de Lima Campos; Carlos Frederico Martins Menck; Jaqueline de Azevêdo Silva
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A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise-Induced Hearing Loss Risk调控单核苷酸多态性影响SP1转录因子结合位点的PIK3R3基因对噪声性听力损失风险有贡献
deleteHuman Mutation
IF3.7
delete2026-10-07
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deleteLong Miao; Jiaxuan Zhou; Man Qu; Yu Xue; Xiuli Zhao; Xiaoqin Li; Yang Wang; Shuang Qiu
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Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome雄激素受体变异在雄激素不敏感综合征患者中的功能表征及基因型-表型相关性
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IF3.7
delete2026-10-05
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deleteDi Mao; Lijun Fan; Yueni Zhang; Chunxiu Gong
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Genotype–Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 MutationsPRRT2基因突变患者的基因型-表型相关性及其在个性化遗传咨询中的意义
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IF3.7
delete2026-10-05
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deleteShangyu Wang; Xiaohui Min; Gege Yuan; Mingying He; Bing Wu; Xiaoyu Liu; Bixia Zheng; Yang Li; Aihua Zhang; Gang Zhang
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Genotype–Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants—New Cases and Systematic Review携带双等位基因 FDXR 致病变异的患者中的基因型-表型关系——新病例和系统综述
deleteHuman Mutation
IF3.7
delete2026-10-03
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deleteAntoine Paul; Ghizlene Lahlou; Sophie Achard; Jérôme Nevoux; Isabelle Mosnier; Isabelle Rouillon; Yann Nguyen; Maya Benali; Jean-François Papon; Agnes Rotig; Margaux Serey-Gaut; Celine Labeyrie; Guillemette Beaudonnet; Laurence Jonard; Ralyath Balogoun; Sandrine Marlin
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Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings资源有限环境下对肢体带型肌营养不良症的综合性诊断方法
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IF3.7
delete2026-10-03
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deleteHammad Yousaf; Lubaba Bintee Khalid; Affan Ahmed; Rafia Zafar Ghumman; Shaheer Hassan; Hijab Zahra; Ghazala Zafar; Kinza Rubab; Hazaratullah Azakai; Haq Nawaz Khan; Qamar Mahmood; Asmat Ali; Bilal Ahmad Mian; Zafar Ali; Mohammad Raza; Sanam Bano; Khairunnisa Mukhtiar; Uzma Abdullah; Shahnaz H. Ibrahim; Shahid M. Baig; Mathias Toft; Salman Kirmani; Zafar Iqbal; Ambrin Fatima
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Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing通过结构变异测序识别的德夫纳肌营养不良症家族中隐匿性复杂染色体重排的遗传分析与生殖干预
deleteHuman Mutation
IF3.7
delete2026-10-01
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deleteShengfang Qin; Xueyan Wang; Jin Wang; Xiangyou Leng; Zhuo Zhang; Ximin Chen; Yan Yin
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A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental DisordersGluA2中一种从头Arg649Trp变异损害其与GluA1的组装：与癫痫和神经发育障碍相关
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IF3.7
delete2026-10-01
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deleteJing-Wen Chen; Ying-Chun Lin; Ping Hu; Feng-Chang Qiao; Yan Wang; Qing-Qing Li; Shi-Ji Deng; Qin-Xin Zhang; Jiang Chen; Yun Stone Shi
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Novel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept基于限制圈的短读基因组测序的结构变异分型新策略：实验与生物信息学概念验证
deleteHuman Mutation
IF3.7
delete2026-10-01
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deleteMiguel M. Abelleyro; Patricio Yankilevich; Betiana M. Ziegler; Leonela Luce; Héctor M. Cifuentes; Claudia P. Radic; Liliana C. Rossetti; Florencia Giliberto; Carlos D. De Brasi
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Expanding the Molecular Data of DICER1-Related Tumor Predisposition: Novel Germline Variants in an Argentine Pediatric Cohort扩展DICER1相关肿瘤易感性的分子数据：阿根廷儿科队列中的新型生殖细胞系变异
deleteHuman Mutation
IF3.7
delete2026-10-01
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deleteSofía Trobo; Natalia Pérez Garrido; Pablo Ramírez; Fiorella Tesan; Elisa Vaiani; Noelia Dujovne; Natalia Gazek; Jessica Lopez Martí; Mariana Lavia; Guido Felizzia; Victoria Pringles; Melisa Agotegaray; Nora Saraco; Marta Ciaccio; Alicia Belgorosky; Roxana Marino
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Knowledge Mapping of Human Genetic Variation in Multiomics Biomarker Translation: A Bibliometric Analysis多组学生物标志物转化中人类遗传变异的知识图谱：一项文献计量分析
deleteHuman Mutation
IF3.7
delete2026-09-29
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deleteBangshu Zhao; Wei Ran; Ning Liang
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Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways锌转运体基因变异（SLC30A和SLC39A）与人类疾病：从金属稳态失调到趋同信号通路
deleteHuman Mutation
IF3.7
delete2026-09-29
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deleteBo Sun; Jing Ma; Xiaohong Bai; Shusong Wang
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Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study198例非致死性成骨不全症韩国患者的基因型与表型：一项回顾性队列研究
deleteHuman Mutation
IF3.7
delete2026-09-29
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deleteJunpyo Lee; Hye Ran Lee; Jung Min Ko; Chang Ho Shin; Wonik Lee; Mi Hyun Song; Tae-Joon Cho
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Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype–Phenotype CorrelationsKAT6B相关疾病的临床与分子特征解析：新发变异与基因型-表型关联的精细化
deleteHuman Mutation
IF3.7
delete2026-09-25
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deleteVito Luigi Colona; Maria Gnazzo; Annalidia Donato; Lavinia Fioretti; Alessandra Terracciano; Delia Monopoli; Paola Sabrina Buonuomo; Michaela Veronika Gonfiantini; Donatella Lettori; Roberta Taurisano; Tommaso Mazza; Daniela Concolino; Mafalda Mucciolo; Marina Macchiaiolo; Antonio Novelli; Davide Vecchio
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Patient-Derived iPSC-Cardiomyocytes Reveal Subclinical Cardiomyocyte Dysfunction Associated With the CAV3 N-Terminal Variant p.Ala46Thr患者来源的iPSC-心肌细胞揭示与CAV3 N端变异p.Ala46Thr相关的亚临床心肌细胞功能障碍
deleteHuman Mutation
IF3.7
delete2026-09-23
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deleteJunyi Wang; Xintong Zhu; Yaqiong Li; Limeng Dai; Xiaoyin Tan; Jia Li; Hong Guo
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