Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.P299_I300del2
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SLC26A4

NM_000441.2:p.P299_I300del2

Associated Papers

Analysis of combined screening results of the hearing and deafness genes in 10,754 newborns.

Lian J et al.

Open Medicine (warsaw, Poland), 2026

Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.

Ma P et al.

Molecular Genetics & Genomic Medicine, 2024

Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.

Xiong Y et al.

International Journal of Pediatric Otorhinolaryngology, 2024

Hereditary deafness carrier screening in 9,993 Chinese individuals.

Liu Y et al.

Frontiers in Genetics, 2023

38274112 (PubMed )
Supplement: Table1.XLSX › Table_S3_Variant_spectrum_of_SL

Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts.

He X et al.

Bmc Medical Genomics, 2022

Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.

Xie L et al.

Neural Plasticity, 2021

Pilot study of a novel multi-functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single-gene disorder screening.

Luo Y et al.

Molecular Genetics & Genomic Medicine, 2019

[Application of next generation sequencing in congenital sensorineural deafness].

Xu B et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2018

Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review.

Tsukada K et al.

The Annals of Otology, Rhinology, and Laryngology, 2015

Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.

Wu CM et al.

Plos One, 2015

[Common deafness gene mutations of non-syndromic hearing loss in Liaoning].

Tian Y et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2014

Genetic and audiological determinants of hearing loss in high-risk neonates.

Shi Y et al.

Brazilian Journal of Otorhinolaryngology, 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."