Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.D1155Splc
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FBN1

NM_000138.5:p.D1155Splc

Associated Papers

Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.

Bai Y et al.

Orphanet Journal of Rare Diseases, 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."