Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.F709fs
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SLC26A4

NM_000441.2:p.F709fs

Associated Papers

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM8_ESM.xlsx › Deleterious_variants

Homology of pendrin, sodium-iodide symporter and apical iodide transporter.

Benvenga S et al.

Frontiers in Bioscience (landmark Edition), 2018

Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.

Ladsous M et al.

Thyroid : Official Journal of the American Thyroid Association, 2014

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.

Landa P et al.

Bmc Medical Genetics, 2013

[Pendred syndrome and nonsyndromic related deafness: a same entity?].

Wemeau JL et al.

Bulletin De L'academie Nationale De Medecine, 0

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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."