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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB1

Variant:p.V23I

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GJB1

NM_000166.6:p.V23I

hg38:chrX:71223774 G>A

Associated Papers

Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.

Bhatt K et al.

Journal of the American Heart Association, 2024

39575713 (PubMed )

Supplement: JAH3-13-e033770-s001.pdf

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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."