Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.H133delFs
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FBN1

NM_000138.5:p.H133delFs

Associated Papers

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome.

Yalcintepe S et al.

Global Medical Genetics, 2020

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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."