Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.A429E
Back to variants list

SLC26A4

NM_000441.2:p.A429E

Associated Papers

Analysis of deafness susceptibility gene of neonates in northern Guangdong, China.

Ma Z et al.

Scientific Reports, 2024

Preimplantation genetic testing for hereditary hearing loss in Chinese population.

Bi Q et al.

Journal of Assisted Reproduction and Genetics, 2023

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 and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.

Long W et al.

Frontiers in Endocrinology, 2021

Mutation analysis of the SLC26A4 gene in three Chinese families.

Wen C et al.

Bioscience Trends, 2019

Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis.

Chen X et al.

International Journal of Endocrinology, 2018

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

Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.

Bassot C et al.

Biochimie, 2017

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

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

Zhao J et al.

Plos One, 2014

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.

Huang S et al.

Journal of Translational Medicine, 2011

[Analysis of positive rate of common genetic mutations in 1448 cases with different hearing phenotype].

Wang G et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."