Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.E1064delFs
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FBN1

NM_000138.5:p.E1064delFs

Associated Papers

Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.

Maeda J et al.

Heart and Vessels, 2016

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

Tiecke F et al.

European Journal of Human Genetics : Ejhg, 2001

Marfan Database (third edition): new mutations and new routines for the software.

Collod-Béroud G et al.

Nucleic Acids Research, 1998

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.

Collod-Béroud G et al.

Nucleic Acids Research, 1997

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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."