Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.D573Y
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SLC26A4

NM_000441.2:p.D573Y

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 › Sheet1

Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China.

Hu H et al.

Medicine, 2021

33907123 (PubMed )
Supplement: medi-100-e25647-s002.xlsx › Table_S2

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

Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.

Rapp C et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

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

Mittal R et al.

Journal of Cellular Physiology, 2017

A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.

He X et al.

International Journal of Pediatric Otorhinolaryngology, 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

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

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

The genetic bases for non-syndromic hearing loss among Chinese.

Ouyang XM et al.

Journal of Human Genetics, 2009

Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.

Dai P et al.

Journal of Translational Medicine, 2008

A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.

Wang QJ et al.

Clinical Genetics, 2007

[Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population].

Tian G et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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."