Variants Of Unknown Significance (vus) - Toxicology

Relevant Publications

Targeted Next-Generation Sequencing in Rare Diseases.

Issue Release: 2025

Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.

Issue Release: 2024

Prevalence of CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT Pathogenic Variants in a Single-Center Retrospective Series of Patients With Melanoma and Personal or Family History Suggestive of Genetic Predisposition.

Issue Release: 2024

A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.

Issue Release: 2024

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.

Issue Release: 2024

Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis.

Issue Release: 2024

Adenomas from individuals with pathogenic biallelic variants in the and genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.

Issue Release: 2024

Germline genetic testing reveals pathogenic variants in uterine serous carcinoma patients.

Issue Release: 2024

Assessment of a novel NRAS in-frame tandem duplication causing a myelodysplastic/myeloproliferative neoplasm.

Issue Release: 2024

Variant of uncertain significance Arg866Cys enhances disorderedness of h-BRCA1 (759-1064) region.

Issue Release: 2024

Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic.

Issue Release: 2024

Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease.

Issue Release: 2024

Yield of Molecular Autopsy in Sudden Cardiac Death in Athletes. Data from a Large Registry in the United Kingdom.

Issue Release: 2024

Predicting the impact of rare variants on RNA splicing in CAGI6.

Issue Release: 2024

Genetics of Parkinson\'s Disease: state-of-the-art and role in clinical settings.

Issue Release: 2024

Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children\'s Hospital Medical Center.

Issue Release: 2024

The Use of Genetic Testing in Nephrolithiasis Evaluation: A Retrospective Review from a Multidisciplinary Kidney Stone Clinic.

Issue Release: 2024

Chromosomal Anomalies in Fetuses With Increased Nuchal Translucency: A Vietnamese Retrospective Study.

Issue Release: 2024

Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.

Issue Release: 2024

Prenatal detection of novel compound heterozygous variants of the gene in a fetus with congenital heart disease.

Issue Release: 2024

How Can Crude Death Rate be Improved for Toxicology Studies?

How is Systemic Absorption Measured?

What are Synthetic Corticosteroids?

What Safety Measures are in Place for Handling MIC?

How Does Geography Influence Toxicology?

How Is Siderosis Diagnosed?

Can Medications Impact the Posterior Pituitary?

Why is Cost Important in Toxicology?

Can Vinegar be Used in Pest Control?

How do Foreign Objects Cause Toxicity?

Partnered Content Networks

Relevant Topics