Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.F515Splc
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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

Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.

Li Q et al.

Journal of Translational Medicine, 2012

[Genetic counseling and instruction for deaf couples directed by genetic testing].

Han B et al.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2007

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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."