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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTR

Variant:p.R41fs

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TTR

NM_000371.4:p.R41fs

hg38:chr18:31592947 CGA>N

Associated Papers

Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.

Singh A et al.

Journal of Clinical Medicine, 2025

41095902 (PubMed )

Supplement: jcm-14-06821-s001.zip › jcm-3769433-supplementary.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."