Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.K447_S448Splc
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SLC26A4

NM_000441.2:p.K447_S448Splc

Associated Papers

Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts.

He X et al.

Bmc Medical Genomics, 2022

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.

Lu YJ et al.

Medicine, 2015

26683941 (PubMed )
Supplement: medi-94-e2248-s002.xls › Sheet1

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

SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.

Rendtorff ND et al.

Clinical Genetics, 2013

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

Albert S et al.

European Journal of Human Genetics : Ejhg, 2006

[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."