Associated Papers
The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia.
Pshennikova VG et al.
Journal of Human Genetics, 2026
Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families.
Jagannath K et al.
Molecular Biology Reports, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
A novel role for the chloride intracellular channel protein Clic5 in ciliary function.
Ott E et al.
Scientific Reports, 2023
Cell-based analysis of CLIC5A and SLC12A2 variants associated with hearing impairment in two African families.
Adadey SM et al.
Frontiers in Genetics, 2022
Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment.
Wonkam-Tingang E et al.
Genes, 2020
Intracellular Chloride Channels: Novel Biomarkers in Diseases.
Gururaja Rao S et al.
Frontiers in Physiology, 2020
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
Genetic contribution to vestibular diseases.
Gallego-Martinez A et al.
Journal of Neurology, 2018
Genetics of vestibular disorders: pathophysiological insights.
Frejo L et al.
Journal of Neurology, 2016
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
Seco CZ et al.
European Journal of Human Genetics : Ejhg, 2015
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