Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.D1113Splc
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FBN1

NM_000138.5:p.D1113Splc

Associated Papers

Generation of an induced pluripotent stem cell line, JHUi006-A, from a Marfan Syndrome patient harboring a pathogenic c.5225-2A > C intronic splicing variant.

Hall FD et al.

Stem Cell Research, 2026

Generation of an induced pluripotent stem cell line, JHUi005-A, from a Marfan Syndrome patient harboring a pathogenic c.3338-2A>C intronic splicing variant.

Hall FD et al.

Stem Cell Research, 2024

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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."