Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.Y962*
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FBN1

NM_000138.5:p.Y962*

Associated Papers

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

Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.

Li Y et al.

American Journal of Translational Research, 2021

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

Mannucci L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

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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."