Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Y78H
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SLC26A4

NM_000441.2:p.Y78H

Associated Papers

Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.

Liu Q et al.

Nature Communications, 2023

37230976 (PubMed )
Supplement: 41467_2023_38303_MOESM3_ESM.xlsx › SLC26A4.gvtable.9

Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.

Wang H et al.

Molecular Medicine Reports, 2020

Indispensable Role of Ion Channels and Transporters in the Auditory System.

Mittal R et al.

Journal of Cellular Physiology, 2017

Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome.

Zhang F et al.

International Journal of Pediatric Otorhinolaryngology, 2016

Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.

Yao G et al.

International Journal of Pediatric Otorhinolaryngology, 2013

Familial pattern of large vestibular aqueduct syndrome in a Chinese family.

Hazmi M et al.

Excli Journal, 2013

[Analysis of the hereditary etiology of 336 patients with non-syndromic sensorineural hearing loss from Ningxia Hui Autonomous Region of China].

Wang YL et al.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2012

Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct.

Guo YF et al.

International Journal of Pediatric Otorhinolaryngology, 2010

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