Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C1068Y
Back to variants list

FBN1

NM_000138.5:p.C1068Y

Associated Papers

Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.

Buki G et al.

Molecular Genetics & Genomic Medicine, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."