Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A8
Variant:p.M206insFs
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SLC17A8

NM_139319.3:p.M206insFs

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

VGLUT3-p.A211V variant fuses stereocilia bundles and elongates synaptic ribbons.

Joshi Y et al.

The Journal of Physiology, 2021

The c.824C>A and c.616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3.

Qi Y et al.

Neuroreport, 2021

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

Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans.

Ryu N et al.

Bmc Medical Genetics, 2016

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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."