Varaico: Literature-Extracted Genetic Variants

Gene:STRC
Variant:p.L1640F
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STRC

NM_153700.2:p.L1640F

Associated Papers

Characterization of STRC Gene Conversions by Nanopore Sequencing.

Rigon C et al.

Clinical Chemistry, 2026

Auditory genotype-phenotype correlation of patients with variants in STRC.

Cheon TU et al.

Scientific Reports, 2025

Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.

Pinc Z et al.

Journal of Clinical Immunology, 2025

41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S4_final

Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.

Carlson RJ et al.

Jama Otolaryngology-- Head & Neck Surgery, 2023

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.

Spedicati B et al.

Biomedicines, 2023

Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.

Corriols-Noval P et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2022

Long-read sequencing for molecular diagnostics in constitutional genetic disorders.

Conlin LK et al.

Human Mutation, 2022

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Van Heurck R et al.

Genes, 2021

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.

Vona B et al.

Clinical Genetics, 2015

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

Copy number variants are a common cause of non-syndromic hearing loss.

Shearer AE et al.

Genome Medicine, 2014

24963352 (PubMed )
Supplement: gm554-S2.xlsx › CNVs
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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."