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Human Mutation - ResearchHub

Journal

Human Mutation

1059-7794 · Wiley

9 verified public works

Browse all journals →

A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise‐Induced Hearing Loss Risk

2026 · 0 citations

Functional Characterization and Genotype‐Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome

2026 · 0 citations

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

2026 · 0 citations

Integrated Approach to Diagnosing Limb‐Girdle Muscular Dystrophies in Resource‐Limited Settings

2026 · 0 citations

Genotype–Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants—New Cases and Systematic Review

2026 · 0 citations

Novel Strategy for Structural Variant Genotyping by Short‐Read Genomic Sequencing From Restriction‐Circles: Experimental and Bioinformatics Proof‐of‐Concept

2026 · 0 citations

A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders

2026 · 0 citations

Expanding the Molecular Data of DICER1 ‐Related Tumor Predisposition: Novel Germline Variants in an Argentine Pediatric Cohort

2026 · 0 citations

Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing

2026 · 0 citations

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