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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBN1

Variant:p.D2166insFs

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FBN1

NM_000138.5:p.D2166insFs

hg38:chr15:48436960 C>CCCTGCAAGAAA

Associated Papers

A novel intron mutation in FBN-1 gene identified in a pregnant woman with Marfan syndrome.

Wu Y et al.

Hereditas, 2021

33407909 (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."