Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Q421_V422Splc
Back to variants list

SLC26A4

NM_000441.2:p.Q421_V422Splc

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.

Kang H et al.

European Journal of Human Genetics : Ejhg, 2025

40542191 (PubMed )
Supplement: 41431_2025_1896_MOESM1_ESM.xlsx › Sheet1

Genetic screening of common genetic deafness in 60,391 women of childbearing age and intervention of birth defects.

Niu L et al.

Archives of Medical Science : Ams, 2024

Molecular genetic screening of full-term small for gestational age.

Zhang S et al.

Bmc Pediatrics, 2023

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.

Han M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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

A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome.

Huang CJ et al.

International Journal of Pediatric Otorhinolaryngology, 2013

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."