Varaico: Literature-Extracted Genetic Variants

Gene:STRC
Variant:p.Q195*
Back to variants list

STRC

NM_153700.2:p.Q195*

Associated Papers

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

Cheon TU et al.

Scientific Reports, 2025

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.

Lee SY et al.

Cell Reports. Medicine, 2025

40592345 (PubMed )
Supplement: mmc3.xlsx › Table_S6

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

Kim SY et al.

Scientific Reports, 2022

35864128 (PubMed )
Supplement: 41598_2022_16661_MOESM1_ESM.xlsx › variant_list

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.

Kim SY et al.

Scientific Reports, 2021

34593925 (PubMed )
Supplement: 41598_2021_99007_MOESM1_ESM.xlsx › Table_S1

Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.

Kim BJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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."