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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBN1

Variant:p.C1140Y

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FBN1

NM_000138.5:p.C1140Y

hg38:chr15:48487356 C>T

Associated Papers

Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care.

Stark VC et al.

Genes, 2020

32679894 (PubMed )

Supplement: genes-11-00799-s001.zip › supplement_Data-variants.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."