Varaico: Literature-Extracted Genetic Variants

Gene:OTOA
Variant:p.R79delFs
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OTOA

NM_144672.4:p.R79delFs

Associated Papers

Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.

Jin Y et al.

Biomedicines, 2024

Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.

Tlili A et al.

Human Genomics, 2024

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

Wang L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

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

Xie L et al.

Neural Plasticity, 2021

Autosomal recessive nonsyndromic deafness genes: a review.

Duman D et al.

Frontiers in Bioscience (landmark Edition), 2012

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.

Mahdieh N et al.

Journal of Human Genetics, 2010

Non-syndromic, autosomal-recessive deafness.

Petersen MB et al.

Clinical Genetics, 2006

The genetics of deafness.

Nance WE

Mental Retardation and Developmental Disabilities Research Reviews, 2003

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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."