Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.H133Q
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FBN1

NM_000138.5:p.H133Q

Associated Papers

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

Frédéric MY et al.

Human Mutation, 2009

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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."