Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.F515Splc
Back to variants list

SLC26A4

NM_000441.2:p.F515Splc

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

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

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

Adeyemo A et al.

European Journal of Human Genetics : Ejhg, 2022

34837038 (PubMed )
Supplement: 41431_2021_984_MOESM3_ESM.xlsx › Variants_detected

Intronic variants of SLC26A4 gene enhance splicing efficiency in hybrid minigene assay.

Kallel-Bouattour R et al.

Gene, 2017

Revisiting the morbid genome of Mendelian disorders.

Abouelhoda M et al.

Genome Biology, 2016

27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM5_ESM.pdf

Screening of SLC26A4 gene in autoimmune thyroid diseases.

Kallel R et al.

International Journal of Immunogenetics, 2013

Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.

Chen N et al.

The Journal of Molecular Diagnostics : Jmd, 2011

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."