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Human Mutation | ResearchHub - ResearchHub

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Human Mutation

Wiley · ISSN 1059-7794

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Researchers publishing here

20 linked researchers

Long Miao Jiaxuan Zhou Man Qu Xiuli Zhao Shuang Qiu Di Mao Lijun Fan Yueni Zhang Chunxiu Gong Shangyu Wang Xiaohui Min Bixia Zheng Affan Ahmed Shaheer Hassan Hijab Zahra Kinza Rubab Haq Nawaz Khan Zafar Ali Mohammad Raza Khairunnisa Mukhtiar

Research in this journal

Genotype–Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants—New Cases and Systematic Review2026 · Antoine Paul, Ghizlene Lahlou, Sophie Achard · 0 citations

Integrated Approach to Diagnosing Limb‐Girdle Muscular Dystrophies in Resource‐Limited Settings2026 · Lubaba Bintee Khalid, Affan Ahmed, Rafia Zafar Ghumman · 0 citations

A Regulator SNP Affecting the Transcription Factor <i>SP1</i> Binding Site in the <i>PIK3R3</i> Gene Contributes to Noise‐Induced Hearing Loss Risk2026 · Long Miao, Jiaxuan Zhou, Man Qu · 0 citations

Functional Characterization and Genotype‐Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome2026 · Di Mao, Lijun Fan, Yueni Zhang · 0 citations

Genotype–Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With <i>PRRT2</i> Mutations

2026 · Shangyu Wang, Xiaohui Min, Gege Yuan · 0 citations

Novel Strategy for Structural Variant Genotyping by Short‐Read Genomic Sequencing From Restriction‐Circles: Experimental and Bioinformatics Proof‐of‐Concept2026 · Miguel M. Abelleyro, Patricio Yankilevich, Betiana M. Ziegler · 0 citations

A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders2026 · Jing-Wen Chen, Ying-Chun Lin, Feng-Chang Qiao · 0 citations