Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.G1058_F1059ins1
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FBN1

NM_000138.5:p.G1058_F1059ins1

Associated Papers

Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome.

Booms P et al.

Clinical Genetics, 1999

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."