Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ4
Variant:p.R79C
Back to variants list

KCNQ4

NM_004700.4:p.R79C

Associated Papers

Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4.

Zheng H et al.

Genome Research, 2022

35760561 (PubMed )
Supplement: supp_gr.276562.122_Supplemental_Dataset.xlsx › Supplemental_Dataset_A

The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population.

Huang S et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment.

Wu CC et al.

The Laryngoscope, 2009

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."