Varaico: Literature-Extracted Genetic Variants

Gene:FBN3
Variant:p.R2038H
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FBN3

NM_032447.5:p.R2038H

Associated Papers

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.

Rommel K et al.

Human Mutation, 2005

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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."