Varaico: Literature-Extracted Genetic Variants

Gene:STRC
Variant:p.R1224*
Back to variants list

STRC

NM_153700.2:p.R1224*

Associated Papers

Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients.

Alvaro S et al.

Journal of Human Genetics, 2025

Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.

Mutai H et al.

Human Genetics, 2025

Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.

Nishio SY et al.

Scientific Reports, 2022

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."