Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L471delFs
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SLC26A4

NM_000441.2:p.L471delFs

Associated Papers

Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran.

Koohiyan M et al.

Intractable & Rare Diseases Research, 2021

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.

Ghasemnejad T et al.

International Journal of Pediatric Otorhinolaryngology, 2017

The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.

Yazdanpanahi N et al.

International Journal of Audiology, 2015

Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy.

Rocca FE et al.

Human Genetics, 2010

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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."