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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FLNC

Variant:p.Q2417_E2418Splc

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FLNC

NM_001458.5:p.Q2417_E2418Splc

hg38:chr7:128856516 A>G

Associated Papers

Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants.

Gigli M et al.

Circulation, 2021

34587765 (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."