Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.D1028Splc
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FBN1

NM_000138.5:p.D1028Splc

Associated Papers

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf

Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.

Sheikhzadeh S et al.

Clinical Genetics, 2012

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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."