Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.D1408Splc
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FBN2

NM_001999.4:p.D1408Splc

Associated Papers

Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly.

Sun L et al.

Frontiers in Genetics, 2022

Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature.

Takeda N et al.

American Journal of Medical Genetics. Part A, 2015

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Desmet FO et al.

Nucleic Acids Research, 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."