Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V170_L171insFs
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SLC26A4

NM_000441.2:p.V170_L171insFs

Associated Papers

Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing.

Zeng B et al.

Frontiers in Genetics, 2022

Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China.

Qi M et al.

Birth Defects Research, 2021

The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.

Liu XW et al.

International Journal of Pediatric Otorhinolaryngology, 2020

Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss.

Jiang H et al.

Molecular Medicine Reports, 2014

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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."