Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G139Splc
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SLC26A4

NM_000441.2:p.G139Splc

Associated Papers

Assessing the Functional Significance of Novel and Rare Variants of the SLC26A4 Gene Found in Patients with Hearing Loss by Minigene Assay.

Danilchenko VY et al.

International Journal of Molecular Sciences, 2025

Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.

Danilchenko VY et al.

International Journal of Molecular Sciences, 2022

Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.

Albader N et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss.

Lee B et al.

Human Mutation, 2019

Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.

Dai P et al.

Journal of Translational Medicine, 2008

Heterogeneity in the processing defect of SLC26A4 mutants.

Yoon JS et al.

Journal of Medical Genetics, 2008

Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.

Park HJ et al.

Clinical Genetics, 2005

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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."