Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.K147K
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EYA1

NM_000503.6:p.K147K

Associated Papers

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

Sklenar M et al.

Molecular Medicine (cambridge, Mass.), 2025

40426046 (PubMed )
Supplement: 10020_2025_1262_MOESM1_ESM.docx

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.

Jonard L et al.

International Journal of Pediatric Otorhinolaryngology, 2010

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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."