Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.G1011E
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FBN1

NM_000138.5:p.G1011E

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

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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