Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.R347G
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FBN2

NM_001999.4:p.R347G

Associated Papers

Genetic models of fibrillinopathies.

Summers KM

Genetics, 2024

Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels.

Zeyer KA et al.

Mutation Research. Reviews in Mutation Research, 0

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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."