Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.E1133_Y1136delFs
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FBN1

NM_000138.5:p.E1133_Y1136delFs

Associated Papers

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.

Baetens M et al.

Human Mutation, 2011

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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."