Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.K702delFs
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SLC26A4

NM_000441.2:p.K702delFs

Associated Papers

Molecular genetic landscape of hereditary hearing loss in Pakistan.

Naz S

Human Genetics, 2022

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

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM et al.

Human Mutation, 2019

Genotyping and audiological characteristics of infants with a single-allele SLC26A4 mutation.

Zhao X et al.

International Journal of Pediatric Otorhinolaryngology, 2019

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

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

Yao G et al.

International Journal of Pediatric Otorhinolaryngology, 2013

Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss.

Yazdanpanahi N et al.

International Journal of Pediatric Otorhinolaryngology, 2012

Hearing loss trajectory and prediction model for children with enlarged vestibular aqueduct.

Deng L et al.

American Journal of Otolaryngology, 0

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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."