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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB2

Variant:p.N62delFs

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GJB2

NM_004004.6:p.N62delFs

hg38:chr13:20189396 GTT>G

Associated Papers

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

Karali M et al.

European Journal of Human Genetics : Ejhg, 2025

39672920 (PubMed )

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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."