Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.G2595V
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FBN1

NM_000138.5:p.G2595V

Associated Papers

Targeted genetic analysis in a cohort of sporadic death from spontaneous rupture of thoracic aortic dissection in Han Chinese population.

Zhao Q et al.

Forensic Science International. Genetics, 2024

Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

Taniguchi Y et al.

Journal of Medical Genetics, 2023

34916231 (PubMed )
Supplement: jmedgenet-2021-108186supp001.pdf

FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.

Tan L et al.

Human Molecular Genetics, 2017

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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."