Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.D1070A
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FBN1

NM_000138.5:p.D1070A

Associated Papers

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.

Peng Q et al.

Bmc Pediatrics, 2016

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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."