Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L727fs
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SLC26A4

NM_000441.2:p.L727fs

Associated Papers

The Diverse Genetic Landscape of Hearing Impairment in South African Families.

Bharadwaj T et al.

Clinical Genetics, 2025

Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.

Elsayed O et al.

Molecular Genetics & Genomic Medicine, 2022

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

[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."