Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C1182G
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FBN1

NM_000138.5:p.C1182G

Associated Papers

Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.

Shen X et al.

Journal of Translational Medicine, 2025

41331757 (PubMed )
Supplement: 12967_2025_7523_MOESM1_ESM.pdf

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

Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.

Chen Z et al.

The British Journal of Ophthalmology, 2022

34281902 (PubMed )
Supplement: bjophthalmol-2021-319084supp003.pdf
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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."