Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.V1128I
Back to variants list

FBN1

NM_000138.5:p.V1128I

Associated Papers

The molecular genetics of Marfan syndrome and related disorders.

Robinson PN et al.

Journal of Medical Genetics, 2006

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Collod-Béroud G et al.

Human Mutation, 2003

Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1.

Smallridge RS et al.

The Journal of Biological Chemistry, 2003

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.

Mátyás G et al.

Human Mutation, 2002

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."