Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.I519V
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EYA1

NM_000503.6:p.I519V

Associated Papers

Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing.

Rajput K et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2024

Next-generation sequencing for genetic testing of hearing loss populations.

Wang L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Prevalence and Clinical Characteristics of Mitochondrial DNA Mutations in Korean Patients With Sensorineural Hearing Loss.

Joo SY et al.

Journal of Korean Medical Science, 2023

Genetic etiology of hearing loss in Russia.

Posukh OL

Human Genetics, 2022

Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.

Masuda M et al.

Scientific Reports, 2022

Targeted next-generation sequencing of deaf patients from Southwestern China.

Li Y et al.

Molecular Genetics & Genomic Medicine, 2021

Strategies for genetic study of hearing loss in the Brazilian northeastern region.

Melo US et al.

International Journal of Molecular Epidemiology and Genetics, 2014

Impact of gene patents and licensing practices on access to genetic testing for hearing loss.

Chandrasekharan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

[Pay attention to gene diagnosis of hereditary hearing loss].

Chen XW

Zhonghua Yi Xue Za Zhi, 2007

An overview of hereditary hearing loss.

Bayazit YA et al.

Orl; Journal for Oto-rhino-laryngology and Its Related Specialties, 2006

Audiometric analysis of a Belgian family linked to the DFNA10 locus.

Verstreken M et al.

The American Journal of Otology, 2000

Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment.

Verhoeven K et al.

Human Genetics, 2000

Deafness genes and their diagnostic applications.

Cryns K et al.

Audiology & Neuro-otology, 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."