Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.D530Splc
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FBN1

NM_000138.5:p.D530Splc

Associated Papers

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders.

Fusco C et al.

Genes, 2019

Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: case presentation.

Wypasek E et al.

Clinical Chemistry and Laboratory Medicine, 2018

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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."