Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.E114*
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GJB2

NM_004004.6:p.E114*

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.

Hamelmann C et al.

Human Mutation, 2001

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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."