Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.N2734N
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FBN1

NM_000138.5:p.N2734N

Associated Papers

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.

Hayward C et al.

Human Mutation, 1997

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

Nijbroek G et al.

American Journal of Human Genetics, 1995

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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."