Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.L1123Q
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FBN1

NM_000138.5:p.L1123Q

Associated Papers

Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.

Mattassi R et al.

Journal of Vascular Surgery, 2018

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

Tiecke F et al.

European Journal of Human Genetics : Ejhg, 2001

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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."