Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.D132D
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FBN1

NM_000138.5:p.D132D

Associated Papers

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.

Sakai H et al.

American Journal of Medical Genetics. Part A, 2006

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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."