Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.R12delFs
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EYA1

NM_000503.6:p.R12delFs

Associated Papers

The Diverse Genetic Landscape of Hearing Impairment in South African Families.

Bharadwaj T et al.

Clinical Genetics, 2025

Genetic etiology of hearing loss in Russia.

Posukh OL

Human Genetics, 2022

Etiological Work-up in Referrals From Neonatal Hearing Screening: 20 Years of Experience.

Boudewyns A et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Yu X et al.

Orphanet Journal of Rare Diseases, 2020

Genetics of hearing and deafness.

Angeli S et al.

Anatomical Record (hoboken, N.j. : 2007), 2012

Temporal bone abnormalities in children with GJB2 mutations.

Kenna MA et al.

The Laryngoscope, 2011

Comprehensive diagnostic battery for evaluating sensorineural hearing loss in children.

Lin JW et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2011

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

Temporal bone imaging in GJB2 deafness.

Propst EJ et al.

The Laryngoscope, 2006

Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic.

Yaeger D et al.

American Journal of Medical Genetics. Part A, 2006

The genetics of deafness.

Nance WE

Mental Retardation and Developmental Disabilities Research Reviews, 2003

The molecular genetics of inherited deafness--current and future applications.

Bussoli TJ et al.

The Journal of Laryngology and Otology, 1998

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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."