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Open access

Case report

First published 2026

Genetic strategies for negative or variant of uncertain significance findings in exome sequencing in hereditary bronchiectasis: a case series

Wangji Zhou, Yixuan Li, Qiaoling Chen [...]

Therapeutic Advances in Respiratory Disease

Free access

Case report

First published 2018-2-21

Asymmetric Ataxia,Depression,Memory Loss,Epilepsy,and Axonal Neuropathy Associated with A Heterozygous DNA Polymerase Gamma Variant of Uncertain Significance,c1370G>a (R457Q)

Nivedita U. Jerath, Michael E. Shy

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2002-06

Clinical Interpretation and Recommendations for Patients with a Variant of Uncertain Significance in BRCA1 or BRCA2 : A Survey of Genetic Counseling Practice

Nancie Petrucelli, Noam Lazebnik, Karen M. Huelsman [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2004-09

Variants of Uncertain Clinical Significance as a Result of BRCA1/2 Testing: Impact of an Ambiguous Breast Cancer Risk Message

Sandra Van Dijk, Christi J. Van Asperen, Catharina E. Jacobi [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2023-6

Reflexive standardization and the resolution of uncertainty in the genomics clinic

Adam Hedgecoe, Kathleen Job, Angus Clarke

Social Studies of Science

Retricted access

Other

First published 2018-9

Glycogen-Rich Clear Cell Carcinoma: A Rare Variant of Breast Carcinoma of Uncertain Significance

Naomi E. Akagi, Julie M. Jorns

International Journal of Surgical Pathology

Open access

Case report

First published 2025

Three-stage extensive aortic substitution in a young man with a variant of uncertain significance in myosin heavy chain 11 gene

Federico Pascucci, Tommaso Donati, Albino Vallabini [...]

Vascular

Open access

Review article

First published 2020

Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

Marco Savarese, Salla Välipakka, Mridul Johari [...]

Journal of Neuromuscular Diseases

Open access

Case report

First published 2024

Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings

Clara Schott, Samantha Colaiacovo, Cadence Baker [...]

Canadian Journal of Kidney Health and Disease

Free access

Research article

First published 2022

Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai,India

Satish Vasant Khadilkar, Hiral Amrut Halani, Rashna Dastur [...]

Journal of Neuromuscular Diseases

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