Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.I300L
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SLC26A4

NM_000441.2:p.I300L

Associated Papers

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.

Islam MS et al.

Endocrine, 2025

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Azaiez H et al.

American Journal of Human Genetics, 2018

30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort.

Carvalho SDCES et al.

Bmc Research Notes, 2018

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

Nonose RW et al.

Bmc Medical Genetics, 2018

Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.

Rapp C et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-7.xlsx › S_Data_6

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

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.

Kothiyal P et al.

Bmc Biotechnology, 2010

20146813 (PubMed )
Supplement: 1472-6750-10-10-S1.PDF

SLC26A4 variations among Graves' hyper-functioning thyroid gland.

Hadj-Kacem H et al.

Disease Markers, 2010

The responsible genes in Japanese deafness patients and clinical application using Invader assay.

Usami S et al.

Acta Oto-laryngologica, 2008

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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."