Varaico: Literature-Extracted Genetic Variants

Gene:STRC
Variant:p.Q1343*
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STRC

NM_153700.2:p.Q1343*

Associated Papers

Types of Inheritance and Genes Associated with Familial Meniere Disease.

Parra-Perez AM et al.

Journal of the Association for Research in Otolaryngology : Jaro, 2023

Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease.

Escalera-Balsera A et al.

Genes, 2020

Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.

Frykholm C et al.

European Journal of Human Genetics : Ejhg, 2018

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.

Amr SS et al.

Clinical Chemistry, 2018

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.

Mandelker D et al.

The Journal of Molecular Diagnostics : Jmd, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."