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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYBPC3

Variant:p.R509fs

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MYBPC3

NM_000256.3:p.R509fs

hg38:chr11:47342677 TCT>N

Associated Papers

Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.

Silva SME et al.

Cardiovascular Diagnosis and Therapy, 2024

38716318 (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."