Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.Q565*
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FBN2

NM_001999.4:p.Q565*

Associated Papers

Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII.

Youil R et al.

Human Mutation, 2000

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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."